Skip to main content
Top
Published in: Hereditary Cancer in Clinical Practice 1/2011

Open Access 01-12-2011 | Review

Drug therapy for hereditary cancers

Authors: Evgeny N Imyanitov, Vladimir M Moiseyenko

Published in: Hereditary Cancer in Clinical Practice | Issue 1/2011

Login to get access

Abstract

Tumors arising in patients with hereditary cancer syndromes may have distinct drug sensitivity as compared to their sporadic counterparts. Breast and ovarian neoplasms from BRCA1 or BRCA2 mutation carriers are characterized by deficient homologous recombination (HR) of DNA, that makes them particularly sensitive to platinum compounds or inhibitors of poly (ADP-ribose) polymerase (PARP). Outstandingly durable complete responses to high dose chemotherapy have been observed in several cases of BRCA-related metastatic breast cancer (BC). Multiple lines of evidence indicate that women with BRCA1-related BC may derive less benefit from taxane-based treatment than other categories of BC patients. There is virtually no reports directly assessing drug response in hereditary colorectal cancer (CRC) patients; studies involving non-selected (i.e., both sporadic and hereditary) CRC with high-level microsatellite instability (MSI-H) suggest therapeutic advantage of irinotecan. Celecoxib has been approved for the treatment of familial adenomatous polyposis (FAP). Hereditary medullary thyroid cancers (MTC) have been shown to be highly responsive to a multitargeted tyrosine kinase inhibitor vandetanib, which exerts specific activity towards mutated RET receptor. Given the rapidly improving accessibility of DNA analysis, it is foreseen that the potential predictive value of cancer-associated germ-line mutations will be increasingly considered in the future studies.
Literature
1.
go back to reference Bermejo-Pérez MJ, Márquez-Calderón S, Llanos-Méndez A: Effectiveness of preventive interventions in BRCA1/2 gene mutation carriers: a systematic review. Int J Cancer 2007, 121: 225–231. 10.1002/ijc.22817PubMed Bermejo-Pérez MJ, Márquez-Calderón S, Llanos-Méndez A: Effectiveness of preventive interventions in BRCA1/2 gene mutation carriers: a systematic review. Int J Cancer 2007, 121: 225–231. 10.1002/ijc.22817PubMed
2.
go back to reference Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, Garber JE, Neuhausen SL, Matloff E, Eeles R, Pichert G, Van t'veer L, Tung N, Weitzel JN, Couch FJ, Rubinstein WS, Ganz PA, Daly MB, Olopade OI, Tomlinson G, Schildkraut J, Blum JL, Rebbeck TR: Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010, 304: 967–975. 10.1001/jama.2010.1237PubMedPubMedCentral Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, Garber JE, Neuhausen SL, Matloff E, Eeles R, Pichert G, Van t'veer L, Tung N, Weitzel JN, Couch FJ, Rubinstein WS, Ganz PA, Daly MB, Olopade OI, Tomlinson G, Schildkraut J, Blum JL, Rebbeck TR: Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010, 304: 967–975. 10.1001/jama.2010.1237PubMedPubMedCentral
3.
go back to reference Kurian AW: BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications. Curr Opin Obstet Gynecol 2010, 22: 72–78. 10.1097/GCO.0b013e328332dca3PubMed Kurian AW: BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications. Curr Opin Obstet Gynecol 2010, 22: 72–78. 10.1097/GCO.0b013e328332dca3PubMed
4.
go back to reference Fasano J, Muggia F: Breast cancer arising in a BRCA-mutated background: therapeutic implications from an animal model and drug development. Ann Oncol 2009, 20: 609–614. 10.1093/annonc/mdn669PubMed Fasano J, Muggia F: Breast cancer arising in a BRCA-mutated background: therapeutic implications from an animal model and drug development. Ann Oncol 2009, 20: 609–614. 10.1093/annonc/mdn669PubMed
5.
go back to reference Trainer AH, Lewis CR, Tucker K, Meiser B, Friedlander M, Ward RL: The role of BRCA mutation testing in determining breast cancer therapy. Nat Rev Clin Oncol 2010, 7: 708–717. 10.1038/nrclinonc.2010.175PubMed Trainer AH, Lewis CR, Tucker K, Meiser B, Friedlander M, Ward RL: The role of BRCA mutation testing in determining breast cancer therapy. Nat Rev Clin Oncol 2010, 7: 708–717. 10.1038/nrclinonc.2010.175PubMed
6.
go back to reference van Beers EH, van Welsem T, Wessels LF, Li Y, Oldenburg RA, Devilee P, Cornelisse CJ, Verhoef S, Hogervorst FB, van't Veer LJ, Nederlof PM: Comparative genomic hybridization profiles in human BRCA1 and BRCA2 breast tumors highlight differential sets of genomic aberrations. Cancer Res 2005, 65: 822–827.PubMed van Beers EH, van Welsem T, Wessels LF, Li Y, Oldenburg RA, Devilee P, Cornelisse CJ, Verhoef S, Hogervorst FB, van't Veer LJ, Nederlof PM: Comparative genomic hybridization profiles in human BRCA1 and BRCA2 breast tumors highlight differential sets of genomic aberrations. Cancer Res 2005, 65: 822–827.PubMed
7.
go back to reference Joosse SA, Brandwijk KI, Mulder L, Wesseling J, Hannemann J, Nederlof PM: Genomic signature of BRCA1 deficiency in sporadic basal-like breast tumors. Genes Chromosomes Cancer 2011, 50: 71–81. 10.1002/gcc.20833PubMed Joosse SA, Brandwijk KI, Mulder L, Wesseling J, Hannemann J, Nederlof PM: Genomic signature of BRCA1 deficiency in sporadic basal-like breast tumors. Genes Chromosomes Cancer 2011, 50: 71–81. 10.1002/gcc.20833PubMed
8.
go back to reference Lakhani SR, Manek S, Penault-Llorca F, Flanagan A, Arnout L, Merrett S, McGuffog L, Steele D, Devilee P, Klijn JG, Meijers-Heijboer H, Radice P, Pilotti S, Nevanlinna H, Butzow R, Sobol H, Jacquemier J, Lyonet DS, Neuhausen SL, Weber B, Wagner T, Winqvist R, Bignon YJ, Monti F, Schmitt F, Lenoir G, Seitz S, Hamman U, Pharoah P, Lane G, Ponder B, Bishop DT, Easton DF: Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin Cancer Res 2004, 10: 2473–2481. 10.1158/1078-0432.CCR-1029-3PubMed Lakhani SR, Manek S, Penault-Llorca F, Flanagan A, Arnout L, Merrett S, McGuffog L, Steele D, Devilee P, Klijn JG, Meijers-Heijboer H, Radice P, Pilotti S, Nevanlinna H, Butzow R, Sobol H, Jacquemier J, Lyonet DS, Neuhausen SL, Weber B, Wagner T, Winqvist R, Bignon YJ, Monti F, Schmitt F, Lenoir G, Seitz S, Hamman U, Pharoah P, Lane G, Ponder B, Bishop DT, Easton DF: Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin Cancer Res 2004, 10: 2473–2481. 10.1158/1078-0432.CCR-1029-3PubMed
9.
go back to reference Turner N, Tutt A, Ashworth A: Hallmarks of 'BRCAness' in sporadic cancers. Nat Rev Cancer 2004, 4: 814–819. 10.1038/nrc1457PubMed Turner N, Tutt A, Ashworth A: Hallmarks of 'BRCAness' in sporadic cancers. Nat Rev Cancer 2004, 4: 814–819. 10.1038/nrc1457PubMed
10.
go back to reference Bane AL, Beck JC, Bleiweiss I, Buys SS, Catalano E, Daly MB, Giles G, Godwin AK, Hibshoosh H, Hopper JL, John EM, Layfield L, Longacre T, Miron A, Senie R, Southey MC, West DW, Whittemore AS, Wu H, Andrulis IL, O'Malley FP: BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays. Am J Surg Pathol 2007, 31: 121–128. 10.1097/01.pas.0000213351.49767.0fPubMed Bane AL, Beck JC, Bleiweiss I, Buys SS, Catalano E, Daly MB, Giles G, Godwin AK, Hibshoosh H, Hopper JL, John EM, Layfield L, Longacre T, Miron A, Senie R, Southey MC, West DW, Whittemore AS, Wu H, Andrulis IL, O'Malley FP: BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays. Am J Surg Pathol 2007, 31: 121–128. 10.1097/01.pas.0000213351.49767.0fPubMed
11.
go back to reference Stefansson OA, Jonasson JG, Johannsson OT, Olafsdottir K, Steinarsdottir M, Valgeirsdottir S, Eyfjord JE: Genomic profiling of breast tumours in relation to BRCA abnormalities and phenotypes. Breast Cancer Res 2009, 11: R47. 10.1186/bcr2334PubMedPubMedCentral Stefansson OA, Jonasson JG, Johannsson OT, Olafsdottir K, Steinarsdottir M, Valgeirsdottir S, Eyfjord JE: Genomic profiling of breast tumours in relation to BRCA abnormalities and phenotypes. Breast Cancer Res 2009, 11: R47. 10.1186/bcr2334PubMedPubMedCentral
12.
go back to reference Yarden RI, Papa MZ: BRCA1 at the crossroad of multiple cellular pathways: approaches for therapeutic interventions. Mol Cancer Ther 2006, 5: 1396–1404. 10.1158/1535-7163.MCT-05-0471PubMed Yarden RI, Papa MZ: BRCA1 at the crossroad of multiple cellular pathways: approaches for therapeutic interventions. Mol Cancer Ther 2006, 5: 1396–1404. 10.1158/1535-7163.MCT-05-0471PubMed
13.
go back to reference Holstege H, Joosse SA, van Oostrom CT, Nederlof PM, de Vries A, Jonkers J: High incidence of protein-truncating TP53 mutations in BRCA1-related breast cancer. Cancer Res 2009, 69: 3625–3633. 10.1158/0008-5472.CAN-08-3426PubMed Holstege H, Joosse SA, van Oostrom CT, Nederlof PM, de Vries A, Jonkers J: High incidence of protein-truncating TP53 mutations in BRCA1-related breast cancer. Cancer Res 2009, 69: 3625–3633. 10.1158/0008-5472.CAN-08-3426PubMed
14.
go back to reference Jaspers JE, Rottenberg S, Jonkers J: Therapeutic options for triple-negative breast cancers with defective homologous recombination. Biochim Biophys Acta 2009, 1796: 266–280.PubMed Jaspers JE, Rottenberg S, Jonkers J: Therapeutic options for triple-negative breast cancers with defective homologous recombination. Biochim Biophys Acta 2009, 1796: 266–280.PubMed
15.
go back to reference Hennessy BT, Timms KM, Carey MS, Gutin A, Meyer LA, Flake DD, Abkevich V, Potter J, Pruss D, Glenn P, Li Y, Li J, Gonzalez-Angulo AM, McCune KS, Markman M, Broaddus RR, Lanchbury JS, Lu KH, Mills GB: Somatic mutations in BRCA1 and BRCA2 could expand the number of patients that benefit from poly (ADP ribose) polymerase inhibitors in ovarian cancer. J Clin Oncol 2010, 28: 3570–3576. 10.1200/JCO.2009.27.2997PubMedPubMedCentral Hennessy BT, Timms KM, Carey MS, Gutin A, Meyer LA, Flake DD, Abkevich V, Potter J, Pruss D, Glenn P, Li Y, Li J, Gonzalez-Angulo AM, McCune KS, Markman M, Broaddus RR, Lanchbury JS, Lu KH, Mills GB: Somatic mutations in BRCA1 and BRCA2 could expand the number of patients that benefit from poly (ADP ribose) polymerase inhibitors in ovarian cancer. J Clin Oncol 2010, 28: 3570–3576. 10.1200/JCO.2009.27.2997PubMedPubMedCentral
16.
go back to reference Gudmundsdottir K, Ashworth A: The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability. Oncogene 2006, 25: 5864–5874. 10.1038/sj.onc.1209874PubMed Gudmundsdottir K, Ashworth A: The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability. Oncogene 2006, 25: 5864–5874. 10.1038/sj.onc.1209874PubMed
17.
go back to reference Tutt A, Ashworth A: Can genetic testing guide treatment in breast cancer? Eur J Cancer 2008, 44: 2774–2780. 10.1016/j.ejca.2008.10.009PubMed Tutt A, Ashworth A: Can genetic testing guide treatment in breast cancer? Eur J Cancer 2008, 44: 2774–2780. 10.1016/j.ejca.2008.10.009PubMed
18.
go back to reference Hosey AM, Gorski JJ, Murray MM, Quinn JE, Chung WY, Stewart GE, James CR, Farragher SM, Mulligan JM, Scott AN, Dervan PA, Johnston PG, Couch FJ, Daly PA, Kay E, McCann A, Mullan PB, Harkin DP: Molecular basis for estrogen receptor alpha deficiency in BRCA1-linked breast cancer. J Natl Cancer Inst 2007, 99: 1683–1694. 10.1093/jnci/djm207PubMed Hosey AM, Gorski JJ, Murray MM, Quinn JE, Chung WY, Stewart GE, James CR, Farragher SM, Mulligan JM, Scott AN, Dervan PA, Johnston PG, Couch FJ, Daly PA, Kay E, McCann A, Mullan PB, Harkin DP: Molecular basis for estrogen receptor alpha deficiency in BRCA1-linked breast cancer. J Natl Cancer Inst 2007, 99: 1683–1694. 10.1093/jnci/djm207PubMed
19.
go back to reference Atchley DP, Albarracin CT, Lopez A, Valero V, Amos CI, Gonzalez-Angulo AM, Hortobagyi GN, Arun BK: Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer. J Clin Oncol 2008, 26: 4282–4288. 10.1200/JCO.2008.16.6231PubMed Atchley DP, Albarracin CT, Lopez A, Valero V, Amos CI, Gonzalez-Angulo AM, Hortobagyi GN, Arun BK: Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer. J Clin Oncol 2008, 26: 4282–4288. 10.1200/JCO.2008.16.6231PubMed
20.
go back to reference DeLigio JT, Zorio DA: Early growth response 1 (EGR1): a gene with as many names as biological functions. Cancer Biol Ther 2009, 8: 1889–1892. 10.4161/cbt.8.20.9804PubMed DeLigio JT, Zorio DA: Early growth response 1 (EGR1): a gene with as many names as biological functions. Cancer Biol Ther 2009, 8: 1889–1892. 10.4161/cbt.8.20.9804PubMed
21.
go back to reference Husain A, He G, Venkatraman ES, Spriggs DR: BRCA1 up-regulation is associated with repair-mediated resistance to cis-diamminedichloroplatinum(II). Cancer Res 1998,58(6):1120–1123.PubMed Husain A, He G, Venkatraman ES, Spriggs DR: BRCA1 up-regulation is associated with repair-mediated resistance to cis-diamminedichloroplatinum(II). Cancer Res 1998,58(6):1120–1123.PubMed
22.
go back to reference Bhattacharyya A, Ear US, Koller BH, Weichselbaum RR, Bishop DK: The breast cancer susceptibility gene BRCA1 is required for subnuclear assembly of Rad51 and survival following treatment with the DNA cross-linking agent cisplatin. J Biol Chem 2000, 275: 23899–23903. 10.1074/jbc.C000276200PubMed Bhattacharyya A, Ear US, Koller BH, Weichselbaum RR, Bishop DK: The breast cancer susceptibility gene BRCA1 is required for subnuclear assembly of Rad51 and survival following treatment with the DNA cross-linking agent cisplatin. J Biol Chem 2000, 275: 23899–23903. 10.1074/jbc.C000276200PubMed
23.
go back to reference Lafarge S, Sylvain V, Ferrara M, Bignon YJ: Inhibition of BRCA1 leads to increased chemoresistance to microtubule-interfering agents, an effect that involves the JNK pathway. Oncogene 2001, 20: 6597–6606. 10.1038/sj.onc.1204812PubMed Lafarge S, Sylvain V, Ferrara M, Bignon YJ: Inhibition of BRCA1 leads to increased chemoresistance to microtubule-interfering agents, an effect that involves the JNK pathway. Oncogene 2001, 20: 6597–6606. 10.1038/sj.onc.1204812PubMed
24.
go back to reference Fedier A, Steiner RA, Schwarz VA, Lenherr L, Haller U, Fink D: The effect of loss of Brca1 on the sensitivity to anticancer agents in p53-deficient cells. Int J Oncol 2003, 22: 1169–1173.PubMed Fedier A, Steiner RA, Schwarz VA, Lenherr L, Haller U, Fink D: The effect of loss of Brca1 on the sensitivity to anticancer agents in p53-deficient cells. Int J Oncol 2003, 22: 1169–1173.PubMed
25.
go back to reference Quinn JE, Kennedy RD, Mullan PB, Gilmore PM, Carty M, Johnston PG, Harkin DP: BRCA1 functions as a differential modulator of chemotherapy-induced apoptosis. Cancer Res 2003, 63: 6221–6228.PubMed Quinn JE, Kennedy RD, Mullan PB, Gilmore PM, Carty M, Johnston PG, Harkin DP: BRCA1 functions as a differential modulator of chemotherapy-induced apoptosis. Cancer Res 2003, 63: 6221–6228.PubMed
26.
go back to reference Tassone P, Tagliaferri P, Perricelli A, Blotta S, Quaresima B, Martelli ML, Goel A, Barbieri V, Costanzo F, Boland CR, Venuta S: BRCA1 expression modulates chemosensitivity of BRCA1-defective HCC1937 human breast cancer cells. Br J Cancer 2003, 88: 1285–1291. 10.1038/sj.bjc.6600859PubMedPubMedCentral Tassone P, Tagliaferri P, Perricelli A, Blotta S, Quaresima B, Martelli ML, Goel A, Barbieri V, Costanzo F, Boland CR, Venuta S: BRCA1 expression modulates chemosensitivity of BRCA1-defective HCC1937 human breast cancer cells. Br J Cancer 2003, 88: 1285–1291. 10.1038/sj.bjc.6600859PubMedPubMedCentral
27.
go back to reference Samouëlian V, Maugard CM, Jolicoeur M, Bertrand R, Arcand SL, Tonin PN, Provencher DM, Mes-Masson AM: Chemosensitivity and radiosensitivity profiles of four new human epithelial ovarian cancer cell lines exhibiting genetic alterations in BRCA2, TGFbeta-RII, KRAS2, TP53 and/or CDNK2A. Cancer Chemother Pharmacol 2004, 54: 497–504. 10.1007/s00280-004-0843-9PubMed Samouëlian V, Maugard CM, Jolicoeur M, Bertrand R, Arcand SL, Tonin PN, Provencher DM, Mes-Masson AM: Chemosensitivity and radiosensitivity profiles of four new human epithelial ovarian cancer cell lines exhibiting genetic alterations in BRCA2, TGFbeta-RII, KRAS2, TP53 and/or CDNK2A. Cancer Chemother Pharmacol 2004, 54: 497–504. 10.1007/s00280-004-0843-9PubMed
28.
go back to reference van der Heijden MS, Brody JR, Gallmeier E, Cunningham SC, Dezentje DA, Shen D, Hruban RH, Kern SE: Functional defects in the fanconi anemia pathway in pancreatic cancer cells. Am J Pathol 2004, 165: 651–657. 10.1016/S0002-9440(10)63329-9PubMedPubMedCentral van der Heijden MS, Brody JR, Gallmeier E, Cunningham SC, Dezentje DA, Shen D, Hruban RH, Kern SE: Functional defects in the fanconi anemia pathway in pancreatic cancer cells. Am J Pathol 2004, 165: 651–657. 10.1016/S0002-9440(10)63329-9PubMedPubMedCentral
29.
go back to reference Bartz SR, Zhang Z, Burchard J, Imakura M, Martin M, Palmieri A, Needham R, Guo J, Gordon M, Chung N, Warrener P, Jackson AL, Carleton M, Oatley M, Locco L, Santini F, Smith T, Kunapuli P, Ferrer M, Strulovici B, Friend SH, Linsley PS: Small interfering RNA screens reveal enhanced cisplatin cytotoxicity in tumor cells having both BRCA network and TP53 disruptions. Mol Cell Biol 2006, 26: 9377–9386. 10.1128/MCB.01229-06PubMedPubMedCentral Bartz SR, Zhang Z, Burchard J, Imakura M, Martin M, Palmieri A, Needham R, Guo J, Gordon M, Chung N, Warrener P, Jackson AL, Carleton M, Oatley M, Locco L, Santini F, Smith T, Kunapuli P, Ferrer M, Strulovici B, Friend SH, Linsley PS: Small interfering RNA screens reveal enhanced cisplatin cytotoxicity in tumor cells having both BRCA network and TP53 disruptions. Mol Cell Biol 2006, 26: 9377–9386. 10.1128/MCB.01229-06PubMedPubMedCentral
30.
go back to reference Xing D, Orsulic S: A mouse model for the molecular characterization of brca1-associated ovarian carcinoma. Cancer Res 2006, 66: 8949–8953. 10.1158/0008-5472.CAN-06-1495PubMedPubMedCentral Xing D, Orsulic S: A mouse model for the molecular characterization of brca1-associated ovarian carcinoma. Cancer Res 2006, 66: 8949–8953. 10.1158/0008-5472.CAN-06-1495PubMedPubMedCentral
31.
go back to reference Donawho CK, Luo Y, Luo Y, Penning TD, Bauch JL, Bouska JJ, Bontcheva-Diaz VD, Cox BF, DeWeese TL, Dillehay LE, Ferguson DC, Ghoreishi-Haack NS, Grimm DR, Guan R, Han EK, Holley-Shanks RR, Hristov B, Idler KB, Jarvis K, Johnson EF, Kleinberg LR, Klinghofer V, Lasko LM, Liu X, Marsh KC, McGonigal TP, Meulbroek JA, Olson AM, Palma JP, et al.: ABT-888, an orally active poly(ADP-ribose) polymerase inhibitor that potentiates DNA-damaging agents in preclinical tumor models. Clin Cancer Res 2007, 13: 2728–2737. 10.1158/1078-0432.CCR-06-3039PubMed Donawho CK, Luo Y, Luo Y, Penning TD, Bauch JL, Bouska JJ, Bontcheva-Diaz VD, Cox BF, DeWeese TL, Dillehay LE, Ferguson DC, Ghoreishi-Haack NS, Grimm DR, Guan R, Han EK, Holley-Shanks RR, Hristov B, Idler KB, Jarvis K, Johnson EF, Kleinberg LR, Klinghofer V, Lasko LM, Liu X, Marsh KC, McGonigal TP, Meulbroek JA, Olson AM, Palma JP, et al.: ABT-888, an orally active poly(ADP-ribose) polymerase inhibitor that potentiates DNA-damaging agents in preclinical tumor models. Clin Cancer Res 2007, 13: 2728–2737. 10.1158/1078-0432.CCR-06-3039PubMed
32.
go back to reference Rottenberg S, Nygren AO, Pajic M, van Leeuwen FW, van der Heijden I, van de Wetering K, Liu X, de Visser KE, Gilhuijs KG, van Tellingen O, Schouten JP, Jonkers J, Borst P: Selective induction of chemotherapy resistance of mammary tumors in a conditional mouse model for hereditary breast cancer. Proc Natl Acad Sci USA 2007, 104: 12117–12122. 10.1073/pnas.0702955104PubMedPubMedCentral Rottenberg S, Nygren AO, Pajic M, van Leeuwen FW, van der Heijden I, van de Wetering K, Liu X, de Visser KE, Gilhuijs KG, van Tellingen O, Schouten JP, Jonkers J, Borst P: Selective induction of chemotherapy resistance of mammary tumors in a conditional mouse model for hereditary breast cancer. Proc Natl Acad Sci USA 2007, 104: 12117–12122. 10.1073/pnas.0702955104PubMedPubMedCentral
33.
go back to reference Evers B, Drost R, Schut E, de Bruin M, van der Burg E, Derksen PW, Holstege H, Liu X, van Drunen E, Beverloo HB, Smith GC, Martin NM, Lau A, O'Connor MJ, Jonkers J: Selective inhibition of BRCA2-deficient mammary tumor cell growth by AZD2281 and cisplatin. Clin Cancer Res 2008, 14: 3916–3925. 10.1158/1078-0432.CCR-07-4953PubMed Evers B, Drost R, Schut E, de Bruin M, van der Burg E, Derksen PW, Holstege H, Liu X, van Drunen E, Beverloo HB, Smith GC, Martin NM, Lau A, O'Connor MJ, Jonkers J: Selective inhibition of BRCA2-deficient mammary tumor cell growth by AZD2281 and cisplatin. Clin Cancer Res 2008, 14: 3916–3925. 10.1158/1078-0432.CCR-07-4953PubMed
34.
go back to reference Shafee N, Smith CR, Wei S, Kim Y, Mills GB, Hortobagyi GN, Stanbridge EJ, Lee EY: Cancer stem cells contribute to cisplatin resistance in Brca1/p53-mediated mouse mammary tumors. Cancer Res 2008, 68: 3243–3250. 10.1158/0008-5472.CAN-07-5480PubMedPubMedCentral Shafee N, Smith CR, Wei S, Kim Y, Mills GB, Hortobagyi GN, Stanbridge EJ, Lee EY: Cancer stem cells contribute to cisplatin resistance in Brca1/p53-mediated mouse mammary tumors. Cancer Res 2008, 68: 3243–3250. 10.1158/0008-5472.CAN-07-5480PubMedPubMedCentral
35.
go back to reference Hay T, Matthews JR, Pietzka L, Lau A, Cranston A, Nygren AO, Douglas-Jones A, Smith GC, Martin NM, O'Connor M, Clarke AR: Poly(ADP-ribose) polymerase-1 inhibitor treatment regresses autochthonous Brca2/p53-mutant mammary tumors in vivo and delays tumor relapse in combination with carboplatin. Cancer Res 2009, 69: 3850–3855. 10.1158/0008-5472.CAN-08-2388PubMed Hay T, Matthews JR, Pietzka L, Lau A, Cranston A, Nygren AO, Douglas-Jones A, Smith GC, Martin NM, O'Connor M, Clarke AR: Poly(ADP-ribose) polymerase-1 inhibitor treatment regresses autochthonous Brca2/p53-mutant mammary tumors in vivo and delays tumor relapse in combination with carboplatin. Cancer Res 2009, 69: 3850–3855. 10.1158/0008-5472.CAN-08-2388PubMed
36.
go back to reference Santarosa M, Del Col L, Tonin E, Caragnano A, Viel A, Maestro R: Premature senescence is a major response to DNA cross-linking agents in BRCA1-defective cells: implication for tailored treatments of BRCA1 mutation carriers. Mol Cancer Ther 2009, 8: 844–854.PubMed Santarosa M, Del Col L, Tonin E, Caragnano A, Viel A, Maestro R: Premature senescence is a major response to DNA cross-linking agents in BRCA1-defective cells: implication for tailored treatments of BRCA1 mutation carriers. Mol Cancer Ther 2009, 8: 844–854.PubMed
37.
go back to reference Tassone P, Di Martino MT, Ventura M, Pietragalla A, Cucinotto I, Calimeri T, Bulotta A, Neri P, Caraglia M, Tagliaferri P: Loss of BRCA1 function increases the antitumor activity of cisplatin against human breast cancer xenografts in vivo. Cancer Biol Ther 2009, 8: 648–653.PubMed Tassone P, Di Martino MT, Ventura M, Pietragalla A, Cucinotto I, Calimeri T, Bulotta A, Neri P, Caraglia M, Tagliaferri P: Loss of BRCA1 function increases the antitumor activity of cisplatin against human breast cancer xenografts in vivo. Cancer Biol Ther 2009, 8: 648–653.PubMed
38.
go back to reference Evers B, Schut E, van der Burg E, Braumuller TM, Egan DA, Holstege H, Edser P, Adams DJ, Wade-Martins R, Bouwman P, Jonkers J: A high-throughput pharmaceutical screen identifies compounds with specific toxicity against BRCA2-deficient tumors. Clin Cancer Res 2010, 16: 99–108. 10.1158/1078-0432.CCR-09-2434PubMed Evers B, Schut E, van der Burg E, Braumuller TM, Egan DA, Holstege H, Edser P, Adams DJ, Wade-Martins R, Bouwman P, Jonkers J: A high-throughput pharmaceutical screen identifies compounds with specific toxicity against BRCA2-deficient tumors. Clin Cancer Res 2010, 16: 99–108. 10.1158/1078-0432.CCR-09-2434PubMed
39.
go back to reference Drew Y, Mulligan EA, Vong WT, Thomas HD, Kahn S, Kyle S, Mukhopadhyay A, Los G, Hostomsky Z, Plummer ER, Edmondson RJ, Curtin NJ: Therapeutic potential of poly(ADP-ribose) polymerase inhibitor AG014699 in human cancers with mutated or methylated BRCA1 or BRCA2. J Natl Cancer Inst 2011, 103: 334–346. 10.1093/jnci/djq509PubMed Drew Y, Mulligan EA, Vong WT, Thomas HD, Kahn S, Kyle S, Mukhopadhyay A, Los G, Hostomsky Z, Plummer ER, Edmondson RJ, Curtin NJ: Therapeutic potential of poly(ADP-ribose) polymerase inhibitor AG014699 in human cancers with mutated or methylated BRCA1 or BRCA2. J Natl Cancer Inst 2011, 103: 334–346. 10.1093/jnci/djq509PubMed
40.
go back to reference Kortmann U, McAlpine JN, Xue H, Guan J, Ha G, Tully S, Shafait S, Lau A, Cranston AN, O'Connor MJ, Huntsman DG, Wang Y, Gilks CB: Tumor growth inhibition by olaparib in BRCA2 germline-mutated patient-derived ovarian cancer tissue xenografts. Clin Cancer Res 2011, 17: 783–791. 10.1158/1078-0432.CCR-10-1382PubMed Kortmann U, McAlpine JN, Xue H, Guan J, Ha G, Tully S, Shafait S, Lau A, Cranston AN, O'Connor MJ, Huntsman DG, Wang Y, Gilks CB: Tumor growth inhibition by olaparib in BRCA2 germline-mutated patient-derived ovarian cancer tissue xenografts. Clin Cancer Res 2011, 17: 783–791. 10.1158/1078-0432.CCR-10-1382PubMed
41.
go back to reference Yu VP, Koehler M, Steinlein C, Schmid M, Hanakahi LA, van Gool AJ, West SC, Venkitaraman AR: Gross chromosomal rearrangements and genetic exchange between nonhomologous chromosomes following BRCA2 inactivation. Genes Dev 2000, 14: 1400–1406.PubMedPubMedCentral Yu VP, Koehler M, Steinlein C, Schmid M, Hanakahi LA, van Gool AJ, West SC, Venkitaraman AR: Gross chromosomal rearrangements and genetic exchange between nonhomologous chromosomes following BRCA2 inactivation. Genes Dev 2000, 14: 1400–1406.PubMedPubMedCentral
42.
go back to reference Moynahan ME, Cui TY, Jasin M: Homology-directed dna repair, mitomycin-c resistance, and chromosome stability is restored with correction of a Brca1 mutation. Cancer Res 2001, 61: 4842–4850.PubMed Moynahan ME, Cui TY, Jasin M: Homology-directed dna repair, mitomycin-c resistance, and chromosome stability is restored with correction of a Brca1 mutation. Cancer Res 2001, 61: 4842–4850.PubMed
43.
go back to reference van der Heijden MS, Brody JR, Dezentje DA, Gallmeier E, Cunningham SC, Swartz MJ, DeMarzo AM, Offerhaus GJ, Isacoff WH, Hruban RH, Kern SE: In vivo therapeutic responses contingent on Fanconi anemia/BRCA2 status of the tumor. Clin Cancer Res 2005, 11: 7508–7515. 10.1158/1078-0432.CCR-05-1048PubMed van der Heijden MS, Brody JR, Dezentje DA, Gallmeier E, Cunningham SC, Swartz MJ, DeMarzo AM, Offerhaus GJ, Isacoff WH, Hruban RH, Kern SE: In vivo therapeutic responses contingent on Fanconi anemia/BRCA2 status of the tumor. Clin Cancer Res 2005, 11: 7508–7515. 10.1158/1078-0432.CCR-05-1048PubMed
44.
go back to reference Yun J, Zhong Q, Kwak JY, Lee WH: Hypersensitivity of Brca1-deficient MEF to the DNA interstrand crosslinking agent mitomycin C is associated with defect in homologous recombination repair and aberrant S-phase arrest. Oncogene 2005, 24: 4009–4016.PubMed Yun J, Zhong Q, Kwak JY, Lee WH: Hypersensitivity of Brca1-deficient MEF to the DNA interstrand crosslinking agent mitomycin C is associated with defect in homologous recombination repair and aberrant S-phase arrest. Oncogene 2005, 24: 4009–4016.PubMed
45.
go back to reference Brodie SG, Xu X, Qiao W, Li WM, Cao L, Deng CX: Multiple genetic changes are associated with mammary tumorigenesis in Brca1 conditional knockout mice. Oncogene 2001, 20: 7514–7523. 10.1038/sj.onc.1204929PubMed Brodie SG, Xu X, Qiao W, Li WM, Cao L, Deng CX: Multiple genetic changes are associated with mammary tumorigenesis in Brca1 conditional knockout mice. Oncogene 2001, 20: 7514–7523. 10.1038/sj.onc.1204929PubMed
46.
go back to reference Issaeva N, Thomas HD, Djureinovic T, Jaspers JE, Stoimenov I, Kyle S, Pedley N, Gottipati P, Zur R, Sleeth K, Chatzakos V, Mulligan EA, Lundin C, Gubanova E, Kersbergen A, Harris AL, Sharma RA, Rottenberg S, Curtin NJ, Helleday T: 6-thioguanine selectively kills BRCA2-defective tumors and overcomes PARP inhibitor resistance. Cancer Res 2010, 70: 6268–6276. 10.1158/0008-5472.CAN-09-3416PubMedPubMedCentral Issaeva N, Thomas HD, Djureinovic T, Jaspers JE, Stoimenov I, Kyle S, Pedley N, Gottipati P, Zur R, Sleeth K, Chatzakos V, Mulligan EA, Lundin C, Gubanova E, Kersbergen A, Harris AL, Sharma RA, Rottenberg S, Curtin NJ, Helleday T: 6-thioguanine selectively kills BRCA2-defective tumors and overcomes PARP inhibitor resistance. Cancer Res 2010, 70: 6268–6276. 10.1158/0008-5472.CAN-09-3416PubMedPubMedCentral
47.
go back to reference Abbott DW, Freeman ML, Holt JT: Double-strand break repair deficiency and radiation sensitivity in BRCA2 mutant cancer cells. J Natl Cancer Inst 1998, 90: 978–985. 10.1093/jnci/90.13.978PubMed Abbott DW, Freeman ML, Holt JT: Double-strand break repair deficiency and radiation sensitivity in BRCA2 mutant cancer cells. J Natl Cancer Inst 1998, 90: 978–985. 10.1093/jnci/90.13.978PubMed
48.
go back to reference Treszezamsky AD, Kachnic LA, Feng Z, Zhang J, Tokadjian C, Powell SN: BRCA1- and BRCA2-deficient cells are sensitive to etoposide-induced DNA double-strand breaks via topoisomerase II. Cancer Res 2007, 67: 7078–7081. 10.1158/0008-5472.CAN-07-0601PubMed Treszezamsky AD, Kachnic LA, Feng Z, Zhang J, Tokadjian C, Powell SN: BRCA1- and BRCA2-deficient cells are sensitive to etoposide-induced DNA double-strand breaks via topoisomerase II. Cancer Res 2007, 67: 7078–7081. 10.1158/0008-5472.CAN-07-0601PubMed
49.
go back to reference Mullan PB, Quinn JE, Gilmore PM, McWilliams S, Andrews H, Gervin C, McCabe N, McKenna S, White P, Song YH, Maheswaran S, Liu E, Haber DA, Johnston PG, Harkin DP: BRCA1 and GADD45 mediated G2/M cell cycle arrest in response to antimicrotubule agents. Oncogene 2001, 20: 6123–6131. 10.1038/sj.onc.1204712PubMed Mullan PB, Quinn JE, Gilmore PM, McWilliams S, Andrews H, Gervin C, McCabe N, McKenna S, White P, Song YH, Maheswaran S, Liu E, Haber DA, Johnston PG, Harkin DP: BRCA1 and GADD45 mediated G2/M cell cycle arrest in response to antimicrotubule agents. Oncogene 2001, 20: 6123–6131. 10.1038/sj.onc.1204712PubMed
50.
go back to reference Chabalier C, Lamare C, Racca C, Privat M, Valette A, Larminat F: BRCA1 downregulation leads to premature inactivation of spindle checkpoint and confers paclitaxel resistance. Cell Cycle 2006, 5: 1001–1007. 10.4161/cc.5.9.2726PubMed Chabalier C, Lamare C, Racca C, Privat M, Valette A, Larminat F: BRCA1 downregulation leads to premature inactivation of spindle checkpoint and confers paclitaxel resistance. Cell Cycle 2006, 5: 1001–1007. 10.4161/cc.5.9.2726PubMed
51.
go back to reference Promkan M, Liu G, Patmasiriwat P, Chakrabarty S: BRCA1 modulates malignant cell behavior, the expression of survivin and chemosensitivity in human breast cancer cells. Int J Cancer 2009, 125: 2820–2828. 10.1002/ijc.24684PubMed Promkan M, Liu G, Patmasiriwat P, Chakrabarty S: BRCA1 modulates malignant cell behavior, the expression of survivin and chemosensitivity in human breast cancer cells. Int J Cancer 2009, 125: 2820–2828. 10.1002/ijc.24684PubMed
52.
go back to reference Zhou C, Smith JL, Liu J: Role of BRCA1 in cellular resistance to paclitaxel and ionizing radiation in an ovarian cancer cell line carrying a defective BRCA1. Oncogene 2003, 22: 2396–2404. 10.1038/sj.onc.1206319PubMed Zhou C, Smith JL, Liu J: Role of BRCA1 in cellular resistance to paclitaxel and ionizing radiation in an ovarian cancer cell line carrying a defective BRCA1. Oncogene 2003, 22: 2396–2404. 10.1038/sj.onc.1206319PubMed
53.
go back to reference Tassone P, Blotta S, Palmieri C, Masciari S, Quaresima B, Montagna M, D'Andrea E, Eramo OP, Migale L, Costanzo F, Tagliaferri P, Venuta S: Differential sensitivity of BRCA1-mutated HCC1937 human breast cancer cells to microtubule-interfering agents. Int J Oncol 2005, 26: 1257–1263.PubMed Tassone P, Blotta S, Palmieri C, Masciari S, Quaresima B, Montagna M, D'Andrea E, Eramo OP, Migale L, Costanzo F, Tagliaferri P, Venuta S: Differential sensitivity of BRCA1-mutated HCC1937 human breast cancer cells to microtubule-interfering agents. Int J Oncol 2005, 26: 1257–1263.PubMed
54.
go back to reference Zander SA, Kersbergen A, van der Burg E, de Water N, van Tellingen O, Gunnarsdottir S, Jaspers JE, Pajic M, Nygren AO, Jonkers J, Borst P, Rottenberg S: Sensitivity and acquired resistance of BRCA1;p53-deficient mouse mammary tumors to the topoisomerase I inhibitor topotecan. Cancer Res 2010, 70: 1700–1710. 10.1158/0008-5472.CAN-09-3367PubMed Zander SA, Kersbergen A, van der Burg E, de Water N, van Tellingen O, Gunnarsdottir S, Jaspers JE, Pajic M, Nygren AO, Jonkers J, Borst P, Rottenberg S: Sensitivity and acquired resistance of BRCA1;p53-deficient mouse mammary tumors to the topoisomerase I inhibitor topotecan. Cancer Res 2010, 70: 1700–1710. 10.1158/0008-5472.CAN-09-3367PubMed
55.
go back to reference Rahden-Staroń I, Szumił M, Grosicka E, Kraakman van der Zwet M, Zdzienicka MZ: Defective Brca2 influences topoisomerase I activity in mammalian cells. Acta Biochim Pol 2003, 50: 139–144.PubMed Rahden-Staroń I, Szumił M, Grosicka E, Kraakman van der Zwet M, Zdzienicka MZ: Defective Brca2 influences topoisomerase I activity in mammalian cells. Acta Biochim Pol 2003, 50: 139–144.PubMed
56.
go back to reference Bryant HE, Schultz N, Thomas HD, Parker KM, Flower D, Lopez E, Kyle S, Meuth M, Curtin NJ, Helleday T: Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature 2005, 434: 913–917. 10.1038/nature03443PubMed Bryant HE, Schultz N, Thomas HD, Parker KM, Flower D, Lopez E, Kyle S, Meuth M, Curtin NJ, Helleday T: Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature 2005, 434: 913–917. 10.1038/nature03443PubMed
57.
go back to reference Farmer H, McCabe N, Lord CJ, Tutt AN, Johnson DA, Richardson TB, Santarosa M, Dillon KJ, Hickson I, Knights C, Martin NM, Jackson SP, Smith GC, Ashworth A: Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 2005, 434: 917–921. 10.1038/nature03445PubMed Farmer H, McCabe N, Lord CJ, Tutt AN, Johnson DA, Richardson TB, Santarosa M, Dillon KJ, Hickson I, Knights C, Martin NM, Jackson SP, Smith GC, Ashworth A: Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 2005, 434: 917–921. 10.1038/nature03445PubMed
58.
go back to reference McCabe N, Lord CJ, Tutt AN, Martin NM, Smith GC, Ashworth A: BRCA2-deficient CAPAN-1 cells are extremely sensitive to the inhibition of Poly (ADP-Ribose) polymerase: an issue of potency. Cancer Biol Ther 2005, 4: 934–936. 10.4161/cbt.4.9.2141PubMed McCabe N, Lord CJ, Tutt AN, Martin NM, Smith GC, Ashworth A: BRCA2-deficient CAPAN-1 cells are extremely sensitive to the inhibition of Poly (ADP-Ribose) polymerase: an issue of potency. Cancer Biol Ther 2005, 4: 934–936. 10.4161/cbt.4.9.2141PubMed
59.
go back to reference Rottenberg S, Jaspers JE, Kersbergen A, van der Burg E, Nygren AO, Zander SA, Derksen PW, de Bruin M, Zevenhoven J, Lau A, Boulter R, Cranston A, O'Connor MJ, Martin NM, Borst P, Jonkers J: High sensitivity of BRCA1-deficient mammary tumors to the PARP inhibitor AZD2281 alone and in combination with platinum drugs. Proc Natl Acad Sci USA 2008, 105: 17079–17084. 10.1073/pnas.0806092105PubMedPubMedCentral Rottenberg S, Jaspers JE, Kersbergen A, van der Burg E, Nygren AO, Zander SA, Derksen PW, de Bruin M, Zevenhoven J, Lau A, Boulter R, Cranston A, O'Connor MJ, Martin NM, Borst P, Jonkers J: High sensitivity of BRCA1-deficient mammary tumors to the PARP inhibitor AZD2281 alone and in combination with platinum drugs. Proc Natl Acad Sci USA 2008, 105: 17079–17084. 10.1073/pnas.0806092105PubMedPubMedCentral
60.
go back to reference Goldberg MS, Xing D, Ren Y, Orsulic S, Bhatia SN, Sharp PA: Nanoparticle-mediated delivery of siRNA targeting Parp1 extends survival of mice bearing tumors derived from Brca1-deficient ovarian cancer cells. Proc Natl Acad Sci USA 2011, 108: 745–750. 10.1073/pnas.1016538108PubMed Goldberg MS, Xing D, Ren Y, Orsulic S, Bhatia SN, Sharp PA: Nanoparticle-mediated delivery of siRNA targeting Parp1 extends survival of mice bearing tumors derived from Brca1-deficient ovarian cancer cells. Proc Natl Acad Sci USA 2011, 108: 745–750. 10.1073/pnas.1016538108PubMed
61.
go back to reference Ashworth A: Drug resistance caused by reversion mutation. Cancer Res 2008, 68: 10021–10023. 10.1158/0008-5472.CAN-08-2287PubMed Ashworth A: Drug resistance caused by reversion mutation. Cancer Res 2008, 68: 10021–10023. 10.1158/0008-5472.CAN-08-2287PubMed
62.
go back to reference Underhill C, Toulmonde M, Bonnefoi H: A review of PARP inhibitors: from bench to bedside. Ann Oncol 2011, 22: 268–279. 10.1093/annonc/mdq322PubMed Underhill C, Toulmonde M, Bonnefoi H: A review of PARP inhibitors: from bench to bedside. Ann Oncol 2011, 22: 268–279. 10.1093/annonc/mdq322PubMed
63.
go back to reference Narod SA: BRCA mutations in the management of breast cancer: the state of the art. Nat Rev Clin Oncol 2010, 7: 702–707. 10.1038/nrclinonc.2010.166PubMed Narod SA: BRCA mutations in the management of breast cancer: the state of the art. Nat Rev Clin Oncol 2010, 7: 702–707. 10.1038/nrclinonc.2010.166PubMed
64.
go back to reference Foulkes WD, Goffin J, Brunet JS, Bégin LR, Wong N, Chappuis PO: Tamoxifen may be an effective adjuvant treatment for BRCA1-related breast cancer irrespective of estrogen receptor status. J Natl Cancer Inst 2002, 94: 1504–1506.PubMed Foulkes WD, Goffin J, Brunet JS, Bégin LR, Wong N, Chappuis PO: Tamoxifen may be an effective adjuvant treatment for BRCA1-related breast cancer irrespective of estrogen receptor status. J Natl Cancer Inst 2002, 94: 1504–1506.PubMed
65.
go back to reference Delaloge S, Pélissier P, Kloos I, Bressac de Paillerets B, Mathieu MC, Chompret A, Noguès C, Lortholary A, Piketty AC, Spielmann M: BRCA1-linked breast cancer (BC) is highly more chemosensitive than its BRCA2-linked or sporadic counterparts. Ann Oncol 2002,13(Suppl 5):34. Delaloge S, Pélissier P, Kloos I, Bressac de Paillerets B, Mathieu MC, Chompret A, Noguès C, Lortholary A, Piketty AC, Spielmann M: BRCA1-linked breast cancer (BC) is highly more chemosensitive than its BRCA2-linked or sporadic counterparts. Ann Oncol 2002,13(Suppl 5):34.
66.
go back to reference Chappuis PO, Goffin J, Wong N, Perret C, Ghadirian P, Tonin PN, Foulkes WD: A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer. J Med Genet 2002, 39: 608–610. 10.1136/jmg.39.8.608PubMedPubMedCentral Chappuis PO, Goffin J, Wong N, Perret C, Ghadirian P, Tonin PN, Foulkes WD: A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer. J Med Genet 2002, 39: 608–610. 10.1136/jmg.39.8.608PubMedPubMedCentral
67.
go back to reference Warner E, Trudeau M, Holloway C: Sensitivity of BRCA-1-related breast cancer to neoadjuvant chemotherapy: practical implications. Breast J 2003, 9: 507–508. 10.1046/j.1524-4741.2003.09624.xPubMed Warner E, Trudeau M, Holloway C: Sensitivity of BRCA-1-related breast cancer to neoadjuvant chemotherapy: practical implications. Breast J 2003, 9: 507–508. 10.1046/j.1524-4741.2003.09624.xPubMed
68.
go back to reference Hubert A, Mali B, Hamburger T, Rottenberg Y, Uziely B, Peretz T, Kadouri L: Response to neo-adjuvant chemotherapy in BRCA1 and BRCA2 related stage III breast cancer. Fam Cancer 2009, 8: 173–177. 10.1007/s10689-008-9223-7PubMed Hubert A, Mali B, Hamburger T, Rottenberg Y, Uziely B, Peretz T, Kadouri L: Response to neo-adjuvant chemotherapy in BRCA1 and BRCA2 related stage III breast cancer. Fam Cancer 2009, 8: 173–177. 10.1007/s10689-008-9223-7PubMed
69.
go back to reference Fourquet A, Stoppa-Lyonnet D, Kirova YM, Sigal-Zafrani B, Asselain B, Institut Curie Breast Cancer Study Group; Institut Curie Breast Ovary Cancer Risk Study Group: Familial breast cancer: clinical response to induction chemotherapy or radiotherapy related to BRCA1/2 mutations status. Am J Clin Oncol 2009, 32: 127–131. 10.1097/COC.0b013e31817f9e1cPubMed Fourquet A, Stoppa-Lyonnet D, Kirova YM, Sigal-Zafrani B, Asselain B, Institut Curie Breast Cancer Study Group; Institut Curie Breast Ovary Cancer Risk Study Group: Familial breast cancer: clinical response to induction chemotherapy or radiotherapy related to BRCA1/2 mutations status. Am J Clin Oncol 2009, 32: 127–131. 10.1097/COC.0b013e31817f9e1cPubMed
70.
go back to reference Byrski T, Gronwald J, Huzarski T, Grzybowska E, Budryk M, Stawicka M, Mierzwa T, Szwiec M, Wisniowski R, Siolek M, Dent R, Lubinski J, Narod S: Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. J Clin Oncol 2010, 28: 375–379. 10.1200/JCO.2008.20.7019PubMed Byrski T, Gronwald J, Huzarski T, Grzybowska E, Budryk M, Stawicka M, Mierzwa T, Szwiec M, Wisniowski R, Siolek M, Dent R, Lubinski J, Narod S: Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. J Clin Oncol 2010, 28: 375–379. 10.1200/JCO.2008.20.7019PubMed
71.
go back to reference Wong Wong Keet A, Al-Rafae M, Chappuis PO, Brunet JS, Ghadirian P, Foulkes WD: Long-term outcome after neo-adjuvant chemotherapy for breast cancer in BRCA1/2 carriers. Int J Cancer 2009, 125: 2236–2238. 10.1002/ijc.24596PubMed Wong Wong Keet A, Al-Rafae M, Chappuis PO, Brunet JS, Ghadirian P, Foulkes WD: Long-term outcome after neo-adjuvant chemotherapy for breast cancer in BRCA1/2 carriers. Int J Cancer 2009, 125: 2236–2238. 10.1002/ijc.24596PubMed
72.
go back to reference Petit T, Wilt M, Rodier J, Muller D, Ghnassia J, Dufour P, Fricker J: Are BRCA1 mutations a predictive factor for anthracycline-based neoadjuvant chemotherapy response in triple-negative breast cancers? J Clin Oncol 2007,25(Suppl):abstract 580. Petit T, Wilt M, Rodier J, Muller D, Ghnassia J, Dufour P, Fricker J: Are BRCA1 mutations a predictive factor for anthracycline-based neoadjuvant chemotherapy response in triple-negative breast cancers? J Clin Oncol 2007,25(Suppl):abstract 580.
73.
go back to reference Kriege M, Seynaeve C, Meijers-Heijboer H, Collee JM, Menke-Pluymers MB, Bartels CC, Tilanus-Linthorst MM, Blom J, Huijskens E, Jager A, van den Ouweland A, van Geel B, Hooning MJ, Brekelmans CT, Klijn JG: Sensitivity to first-line chemotherapy for metastatic breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2009, 27: 3764–3771. 10.1200/JCO.2008.19.9067PubMed Kriege M, Seynaeve C, Meijers-Heijboer H, Collee JM, Menke-Pluymers MB, Bartels CC, Tilanus-Linthorst MM, Blom J, Huijskens E, Jager A, van den Ouweland A, van Geel B, Hooning MJ, Brekelmans CT, Klijn JG: Sensitivity to first-line chemotherapy for metastatic breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2009, 27: 3764–3771. 10.1200/JCO.2008.19.9067PubMed
74.
go back to reference Moiseyenko VM, Protsenko SA, Brezhnev NV, Maximov SY, Gershveld ED, Hudyakova MA, Lobeiko OS, Gergova MM, Krzhivitskiy PI, Semionov II, Matsko DE, Iyevleva AG, Sokolenko AP, Sherina NY, Kuligina ESh, Suspitsin EN, Togo AV, Imyanitov EN: High sensitivity of BRCA1-associated tumors to cisplatin monotherapy: report of two cases. Cancer Genet Cytogenet 2010, 197: 91–94. 10.1016/j.cancergencyto.2009.10.003PubMed Moiseyenko VM, Protsenko SA, Brezhnev NV, Maximov SY, Gershveld ED, Hudyakova MA, Lobeiko OS, Gergova MM, Krzhivitskiy PI, Semionov II, Matsko DE, Iyevleva AG, Sokolenko AP, Sherina NY, Kuligina ESh, Suspitsin EN, Togo AV, Imyanitov EN: High sensitivity of BRCA1-associated tumors to cisplatin monotherapy: report of two cases. Cancer Genet Cytogenet 2010, 197: 91–94. 10.1016/j.cancergencyto.2009.10.003PubMed
75.
go back to reference Wysocki PJ, Korski K, Lamperska K, Zaluski J, Mackiewicz A: Primary resistance to docetaxel-based chemotherapy in metastatic breast cancer patients correlates with a high frequency of BRCA1 mutations. Med Sci Monit 2008, 14: SC7-SC10.PubMed Wysocki PJ, Korski K, Lamperska K, Zaluski J, Mackiewicz A: Primary resistance to docetaxel-based chemotherapy in metastatic breast cancer patients correlates with a high frequency of BRCA1 mutations. Med Sci Monit 2008, 14: SC7-SC10.PubMed
76.
go back to reference Kriege M, Jager A, Hooning MJ, Huijskens E, Blom J, van Deurzen CH, Bontenbal M, Collee JM, Menke-Pluijmers MB, Martens JW, Seynaeve C: The efficacy of taxane chemotherapy for metastatic breast cancer in BRCA1 and BRCA2 mutation carriers. Cancer 2011, in press. Kriege M, Jager A, Hooning MJ, Huijskens E, Blom J, van Deurzen CH, Bontenbal M, Collee JM, Menke-Pluijmers MB, Martens JW, Seynaeve C: The efficacy of taxane chemotherapy for metastatic breast cancer in BRCA1 and BRCA2 mutation carriers. Cancer 2011, in press.
77.
go back to reference Imyanitov EN: Breast cancer therapy for BRCA1 carriers: moving towards platinum standard? Hered Cancer Clin Pract 2009, 7: 8. 10.1186/1897-4287-7-8PubMedPubMedCentral Imyanitov EN: Breast cancer therapy for BRCA1 carriers: moving towards platinum standard? Hered Cancer Clin Pract 2009, 7: 8. 10.1186/1897-4287-7-8PubMedPubMedCentral
78.
go back to reference Silver DP, Richardson AL, Eklund AC, Wang ZC, Szallasi Z, Li Q, Juul N, Leong CO, Calogrias D, Buraimoh A, Fatima A, Gelman RS, Ryan PD, Tung NM, De Nicolo A, Ganesan S, Miron A, Colin C, Sgroi DC, Ellisen LW, Winer EP, Garber JE: Efficacy of neoadjuvant Cisplatin in triple-negative breast cancer. J Clin Oncol 2010, 28: 1145–1153. 10.1200/JCO.2009.22.4725PubMedPubMedCentral Silver DP, Richardson AL, Eklund AC, Wang ZC, Szallasi Z, Li Q, Juul N, Leong CO, Calogrias D, Buraimoh A, Fatima A, Gelman RS, Ryan PD, Tung NM, De Nicolo A, Ganesan S, Miron A, Colin C, Sgroi DC, Ellisen LW, Winer EP, Garber JE: Efficacy of neoadjuvant Cisplatin in triple-negative breast cancer. J Clin Oncol 2010, 28: 1145–1153. 10.1200/JCO.2009.22.4725PubMedPubMedCentral
79.
go back to reference Swisher EM, Sakai W, Karlan BY, Wurz K, Urban N, Taniguchi T: Secondary BRCA1 mutations in BRCA1-mutated ovarian carcinomas with platinum resistance. Cancer Res 2008, 68: 2581–2586. 10.1158/0008-5472.CAN-08-0088PubMedPubMedCentral Swisher EM, Sakai W, Karlan BY, Wurz K, Urban N, Taniguchi T: Secondary BRCA1 mutations in BRCA1-mutated ovarian carcinomas with platinum resistance. Cancer Res 2008, 68: 2581–2586. 10.1158/0008-5472.CAN-08-0088PubMedPubMedCentral
80.
go back to reference Huang F, Kushner YB, Langleben A, Foulkes WD, Medscape: Eleven years disease-free: role of chemotherapy in metastatic BRCA2-related breast cancer. Nat Rev Clin Oncol 2009, 6: 488–492. 10.1038/nrclinonc.2009.90PubMed Huang F, Kushner YB, Langleben A, Foulkes WD, Medscape: Eleven years disease-free: role of chemotherapy in metastatic BRCA2-related breast cancer. Nat Rev Clin Oncol 2009, 6: 488–492. 10.1038/nrclinonc.2009.90PubMed
81.
go back to reference Vollebergh MA, Nederlof PM, Wessels LF, Schmidt MK, Joosse SA, van Beers E, Froklage F, Holtkamp M, Schrama JG, Wesseling J, Hauptmann M, de Bruin M, Rodenhuis S, Linn SC: Predicting response to alkylating chemotherapy in breast cancer patients using array comparative genomic hybridization. Cancer Res 2009,69(Suppl 1):abstract 6050. Vollebergh MA, Nederlof PM, Wessels LF, Schmidt MK, Joosse SA, van Beers E, Froklage F, Holtkamp M, Schrama JG, Wesseling J, Hauptmann M, de Bruin M, Rodenhuis S, Linn SC: Predicting response to alkylating chemotherapy in breast cancer patients using array comparative genomic hybridization. Cancer Res 2009,69(Suppl 1):abstract 6050.
82.
go back to reference Tutt A, Robson M, Garber JE, Domchek SM, Audeh MW, Weitzel JN, Friedlander M, Arun B, Loman N, Schmutzler RK, Wardley A, Mitchell G, Earl H, Wickens M, Carmichael J: Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet 2010, 376: 235–244. 10.1016/S0140-6736(10)60892-6PubMed Tutt A, Robson M, Garber JE, Domchek SM, Audeh MW, Weitzel JN, Friedlander M, Arun B, Loman N, Schmutzler RK, Wardley A, Mitchell G, Earl H, Wickens M, Carmichael J: Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet 2010, 376: 235–244. 10.1016/S0140-6736(10)60892-6PubMed
83.
go back to reference Cass I, Baldwin RL, Varkey T, Moslehi R, Narod SA, Karlan BY: Improved survival in women with BRCA-associated ovarian carcinoma. Cancer 2003, 97: 2187–2195. 10.1002/cncr.11310PubMed Cass I, Baldwin RL, Varkey T, Moslehi R, Narod SA, Karlan BY: Improved survival in women with BRCA-associated ovarian carcinoma. Cancer 2003, 97: 2187–2195. 10.1002/cncr.11310PubMed
84.
go back to reference Tan DS, Rothermundt C, Thomas K, Bancroft E, Eeles R, Shanley S, Ardern-Jones A, Norman A, Kaye SB, Gore ME: "BRCAness" syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations. J Clin Oncol 2008, 26: 5530–5536. 10.1200/JCO.2008.16.1703PubMed Tan DS, Rothermundt C, Thomas K, Bancroft E, Eeles R, Shanley S, Ardern-Jones A, Norman A, Kaye SB, Gore ME: "BRCAness" syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations. J Clin Oncol 2008, 26: 5530–5536. 10.1200/JCO.2008.16.1703PubMed
85.
go back to reference Vencken PM, Kriege M, Hoogwerf D, Beugelink S, van der Burg ME, Hooning MJ, Berns EM, Jager A, Collée M, Burger CW, Seynaeve C: Chemosensitivity and outcome of BRCA1- and BRCA2-associated ovarian cancer patients after first-line chemotherapy compared with sporadic ovarian cancer patients. Ann Oncol 2011, 22: 1346–1352. 10.1093/annonc/mdq628PubMed Vencken PM, Kriege M, Hoogwerf D, Beugelink S, van der Burg ME, Hooning MJ, Berns EM, Jager A, Collée M, Burger CW, Seynaeve C: Chemosensitivity and outcome of BRCA1- and BRCA2-associated ovarian cancer patients after first-line chemotherapy compared with sporadic ovarian cancer patients. Ann Oncol 2011, 22: 1346–1352. 10.1093/annonc/mdq628PubMed
86.
go back to reference Melichar B, Fridrichová P, Tomsová M, Malírová E: Repeat chemosensitivity of epithelial ovarian carcinoma in a BRCA1 mutation carrier to paclitaxel/platinum combination chemotherapy. Eur J Gynaecol Oncol 2009, 30: 323–325.PubMed Melichar B, Fridrichová P, Tomsová M, Malírová E: Repeat chemosensitivity of epithelial ovarian carcinoma in a BRCA1 mutation carrier to paclitaxel/platinum combination chemotherapy. Eur J Gynaecol Oncol 2009, 30: 323–325.PubMed
87.
go back to reference Audeh MW, Carmichael J, Penson RT, Friedlander M, Powell B, Bell-McGuinn KM, Scott C, Weitzel JN, Oaknin A, Loman N, Lu K, Schmutzler RK, Matulonis U, Wickens M, Tutt A: Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet 2010, 376: 245–251. 10.1016/S0140-6736(10)60893-8PubMed Audeh MW, Carmichael J, Penson RT, Friedlander M, Powell B, Bell-McGuinn KM, Scott C, Weitzel JN, Oaknin A, Loman N, Lu K, Schmutzler RK, Matulonis U, Wickens M, Tutt A: Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet 2010, 376: 245–251. 10.1016/S0140-6736(10)60893-8PubMed
88.
go back to reference Fong PC, Yap TA, Boss DS, Carden CP, Mergui-Roelvink M, Gourley C, De Greve J, Lubinski J, Shanley S, Messiou C, A'Hern R, Tutt A, Ashworth A, Stone J, Carmichael J, Schellens JH, de Bono JS, Kaye SB: Poly(ADP)-ribose polymerase inhibition: frequent durable responses in BRCA carrier ovarian cancer correlating with platinum-free interval. J Clin Oncol 2010, 28: 2512–2519. 10.1200/JCO.2009.26.9589PubMed Fong PC, Yap TA, Boss DS, Carden CP, Mergui-Roelvink M, Gourley C, De Greve J, Lubinski J, Shanley S, Messiou C, A'Hern R, Tutt A, Ashworth A, Stone J, Carmichael J, Schellens JH, de Bono JS, Kaye SB: Poly(ADP)-ribose polymerase inhibition: frequent durable responses in BRCA carrier ovarian cancer correlating with platinum-free interval. J Clin Oncol 2010, 28: 2512–2519. 10.1200/JCO.2009.26.9589PubMed
89.
go back to reference Weischer M, Bojesen SE, Ellervik C, Tybjaerg-Hansen A, Nordestgaard BG: CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol 2008, 26: 542–548. 10.1200/JCO.2007.12.5922PubMed Weischer M, Bojesen SE, Ellervik C, Tybjaerg-Hansen A, Nordestgaard BG: CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol 2008, 26: 542–548. 10.1200/JCO.2007.12.5922PubMed
90.
go back to reference Suspitsin EN, Sherina NY, Ponomariova DN, Sokolenko AP, Iyevleva AG, Gorodnova TV, Zaitseva OA, Yatsuk OS, Togo AV, Tkachenko NN, Shiyanov GA, Lobeiko OS, Krylova NY, Matsko DE, Maximov SY, Urmancheyeva AF, Porhanova NV, Imyanitov EN: High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. Hered Cancer Clin Pract 2009, 7: 5. 10.1186/1897-4287-7-5PubMedPubMedCentral Suspitsin EN, Sherina NY, Ponomariova DN, Sokolenko AP, Iyevleva AG, Gorodnova TV, Zaitseva OA, Yatsuk OS, Togo AV, Tkachenko NN, Shiyanov GA, Lobeiko OS, Krylova NY, Matsko DE, Maximov SY, Urmancheyeva AF, Porhanova NV, Imyanitov EN: High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. Hered Cancer Clin Pract 2009, 7: 5. 10.1186/1897-4287-7-5PubMedPubMedCentral
91.
go back to reference de Bock GH, Schutte M, Krol-Warmerdam EM, Seynaeve C, Blom J, Brekelmans CT, Meijers-Heijboer H, van Asperen CJ, Cornelisse CJ, Devilee P, Tollenaar RA, Klijn JG: Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. J Med Genet 2004, 41: 731–735. 10.1136/jmg.2004.019737PubMedPubMedCentral de Bock GH, Schutte M, Krol-Warmerdam EM, Seynaeve C, Blom J, Brekelmans CT, Meijers-Heijboer H, van Asperen CJ, Cornelisse CJ, Devilee P, Tollenaar RA, Klijn JG: Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. J Med Genet 2004, 41: 731–735. 10.1136/jmg.2004.019737PubMedPubMedCentral
92.
go back to reference Cybulski C, Huzarski T, Byrski T, Gronwald J, Debniak T, Jakubowska A, Górski B, Wokołrczyk D, Masojć B, Narod SA, Lubiński J: Estrogen receptor status in CHEK2-positive breast cancers: implications for chemoprevention. Clin Genet 2009, 75: 72–78. 10.1111/j.1399-0004.2008.01111.xPubMed Cybulski C, Huzarski T, Byrski T, Gronwald J, Debniak T, Jakubowska A, Górski B, Wokołrczyk D, Masojć B, Narod SA, Lubiński J: Estrogen receptor status in CHEK2-positive breast cancers: implications for chemoprevention. Clin Genet 2009, 75: 72–78. 10.1111/j.1399-0004.2008.01111.xPubMed
93.
go back to reference McCabe N, Turner NC, Lord CJ, Kluzek K, Bialkowska A, Swift S, Giavara S, O'Connor MJ, Tutt AN, Zdzienicka MZ, Smith GC, Ashworth A: Deficiency in the repair of DNA damage by homologous recombination and sensitivity to poly(ADP-ribose) polymerase inhibition. Cancer Res 2006, 66: 8109–8115. 10.1158/0008-5472.CAN-06-0140PubMed McCabe N, Turner NC, Lord CJ, Kluzek K, Bialkowska A, Swift S, Giavara S, O'Connor MJ, Tutt AN, Zdzienicka MZ, Smith GC, Ashworth A: Deficiency in the repair of DNA damage by homologous recombination and sensitivity to poly(ADP-ribose) polymerase inhibition. Cancer Res 2006, 66: 8109–8115. 10.1158/0008-5472.CAN-06-0140PubMed
94.
go back to reference Chrisanthar R, Knappskog S, Løkkevik E, Anker G, Østenstad B, Lundgren S, Berge EO, Risberg T, Mjaaland I, Maehle L, Engebretsen LF, Lillehaug JR, Lønning PE: CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer. PLoS One 2008, 3: e3062. 10.1371/journal.pone.0003062PubMedPubMedCentral Chrisanthar R, Knappskog S, Løkkevik E, Anker G, Østenstad B, Lundgren S, Berge EO, Risberg T, Mjaaland I, Maehle L, Engebretsen LF, Lillehaug JR, Lønning PE: CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer. PLoS One 2008, 3: e3062. 10.1371/journal.pone.0003062PubMedPubMedCentral
95.
go back to reference Jones S, Hruban RH, Kamiyama M, Borges M, Zhang X, Parsons DW, Lin JC, Palmisano E, Brune K, Jaffee EM, Iacobuzio-Donahue CA, Maitra A, Parmigiani G, Kern SE, Velculescu VE, Kinzler KW, Vogelstein B, Eshleman JR, Goggins M, Klein AP: Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 2009, 324: 217. 10.1126/science.1171202PubMedPubMedCentral Jones S, Hruban RH, Kamiyama M, Borges M, Zhang X, Parsons DW, Lin JC, Palmisano E, Brune K, Jaffee EM, Iacobuzio-Donahue CA, Maitra A, Parmigiani G, Kern SE, Velculescu VE, Kinzler KW, Vogelstein B, Eshleman JR, Goggins M, Klein AP: Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 2009, 324: 217. 10.1126/science.1171202PubMedPubMedCentral
96.
go back to reference Bogdanova N, Sokolenko AP, Iyevleva AG, Abysheva SN, Blaut M, Bremer M, Christiansen H, Rave-Fränk M, Dörk T, Imyanitov EN: PALB2 mutations in German and Russian patients with bilateral breast cancer. Breast Cancer Res Treat 2011, 126: 545–550. 10.1007/s10549-010-1290-4PubMed Bogdanova N, Sokolenko AP, Iyevleva AG, Abysheva SN, Blaut M, Bremer M, Christiansen H, Rave-Fränk M, Dörk T, Imyanitov EN: PALB2 mutations in German and Russian patients with bilateral breast cancer. Breast Cancer Res Treat 2011, 126: 545–550. 10.1007/s10549-010-1290-4PubMed
97.
go back to reference Villarroel MC, Rajeshkumar NV, Garrido-Laguna I, De Jesus-Acosta A, Jones S, Maitra A, Hruban RH, Eshleman JR, Klein A, Laheru D, Donehower R, Hidalgo M: Personalizing cancer treatment in the age of global genomic analyses: PALB2 gene mutations and the response to DNA damaging agents in pancreatic cancer. Mol Cancer Ther 2011, 10: 3–8. 10.1158/1535-7163.MCT-10-0893PubMed Villarroel MC, Rajeshkumar NV, Garrido-Laguna I, De Jesus-Acosta A, Jones S, Maitra A, Hruban RH, Eshleman JR, Klein A, Laheru D, Donehower R, Hidalgo M: Personalizing cancer treatment in the age of global genomic analyses: PALB2 gene mutations and the response to DNA damaging agents in pancreatic cancer. Mol Cancer Ther 2011, 10: 3–8. 10.1158/1535-7163.MCT-10-0893PubMed
98.
go back to reference Chalasani P, Kurtin S, Dragovich T: Response to a third-line mitomycin C (MMC)-based chemotherapy in a patient with metastatic pancreatic adenocarcinoma carrying germline BRCA2 mutation. JOP 2008, 9: 305–308.PubMed Chalasani P, Kurtin S, Dragovich T: Response to a third-line mitomycin C (MMC)-based chemotherapy in a patient with metastatic pancreatic adenocarcinoma carrying germline BRCA2 mutation. JOP 2008, 9: 305–308.PubMed
99.
go back to reference James E, Waldron-Lynch MG, Saif MW: Prolonged survival in a patient with BRCA2 associated metastatic pancreatic cancer after exposure to camptothecin: a case report and review of literature. Anticancer Drugs 2009, 20: 634–8. 10.1097/CAD.0b013e32832b511ePubMed James E, Waldron-Lynch MG, Saif MW: Prolonged survival in a patient with BRCA2 associated metastatic pancreatic cancer after exposure to camptothecin: a case report and review of literature. Anticancer Drugs 2009, 20: 634–8. 10.1097/CAD.0b013e32832b511ePubMed
100.
go back to reference Fogelman DR, Wolff RA, Kopetz S, Javle M, Bradley C, Mok I, Cabanillas F, Abbruzzese JL: Evidence for the efficacy of Iniparib, a PARP-1 inhibitor, in BRCA2-associated pancreatic cancer. Anticancer Res 2011, 31: 1417–1420.PubMed Fogelman DR, Wolff RA, Kopetz S, Javle M, Bradley C, Mok I, Cabanillas F, Abbruzzese JL: Evidence for the efficacy of Iniparib, a PARP-1 inhibitor, in BRCA2-associated pancreatic cancer. Anticancer Res 2011, 31: 1417–1420.PubMed
101.
go back to reference Moule R, Sohaib A, Eeles R: Dramatic response to platinum in a patient with cancer with a germline BRCA2 mutation. Clin Oncol (R Coll Radiol) 2009, 21: 444–447. Moule R, Sohaib A, Eeles R: Dramatic response to platinum in a patient with cancer with a germline BRCA2 mutation. Clin Oncol (R Coll Radiol) 2009, 21: 444–447.
102.
go back to reference Fong PC, Boss DS, Yap TA, Tutt A, Wu P, Mergui-Roelvink M, Mortimer P, Swaisland H, Lau A, O'Connor MJ, Ashworth A, Carmichael J, Kaye SB, Schellens JH, de Bono JS: Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 2009, 361: 123–134. 10.1056/NEJMoa0900212PubMed Fong PC, Boss DS, Yap TA, Tutt A, Wu P, Mergui-Roelvink M, Mortimer P, Swaisland H, Lau A, O'Connor MJ, Ashworth A, Carmichael J, Kaye SB, Schellens JH, de Bono JS: Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 2009, 361: 123–134. 10.1056/NEJMoa0900212PubMed
103.
go back to reference Vesprini D, Narod SA, Trachtenberg J, Crook J, Jalali F, Preiner J, Sridhar S, Bristow RG: The therapeutic ratio is preserved for radiotherapy or cisplatin treatment in BRCA2-mutated prostate cancers. Can Urol Assoc J 2011, 5: E31-E35.PubMedPubMedCentral Vesprini D, Narod SA, Trachtenberg J, Crook J, Jalali F, Preiner J, Sridhar S, Bristow RG: The therapeutic ratio is preserved for radiotherapy or cisplatin treatment in BRCA2-mutated prostate cancers. Can Urol Assoc J 2011, 5: E31-E35.PubMedPubMedCentral
104.
go back to reference Sokolenko AP, Iyevleva AG, Preobrazhenskaya EV, Mitiushkina NV, Abysheva SN, Suspitsin EN, Kuligina ESh, Gorodnova TV, Pfeifer W, Togo AV, Turkevich EA, Ivantsov OA, Voskresenskiy DV, Dolmatov GD, Bit-Sava EM, Matsko DE, Semiglazov VF, Fichtner I, Larionov AA, Kuznetsov SG, Antoniou AC, Imyanitov EN: High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. Int J Cancer, in press. Sokolenko AP, Iyevleva AG, Preobrazhenskaya EV, Mitiushkina NV, Abysheva SN, Suspitsin EN, Kuligina ESh, Gorodnova TV, Pfeifer W, Togo AV, Turkevich EA, Ivantsov OA, Voskresenskiy DV, Dolmatov GD, Bit-Sava EM, Matsko DE, Semiglazov VF, Fichtner I, Larionov AA, Kuznetsov SG, Antoniou AC, Imyanitov EN: High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. Int J Cancer, in press.
105.
go back to reference Boland CR, Goel A: Microsatellite instability in colorectal cancer. Gastroenterology 2010, 138: 2073–2087. 10.1053/j.gastro.2009.12.064PubMedPubMedCentral Boland CR, Goel A: Microsatellite instability in colorectal cancer. Gastroenterology 2010, 138: 2073–2087. 10.1053/j.gastro.2009.12.064PubMedPubMedCentral
106.
go back to reference Vilar E, Gruber SB: Microsatellite instability in colorectal cancer-the stable evidence. Nat Rev Clin Oncol 2010, 7: 153–162. 10.1038/nrclinonc.2009.237PubMedPubMedCentral Vilar E, Gruber SB: Microsatellite instability in colorectal cancer-the stable evidence. Nat Rev Clin Oncol 2010, 7: 153–162. 10.1038/nrclinonc.2009.237PubMedPubMedCentral
107.
go back to reference Clark AJ, Barnetson R, Farrington SM, Dunlop MG: Prognosis in DNA mismatch repair deficient colorectal cancer: are all MSI tumours equivalent? Fam Cancer 2004, 3: 85–91.PubMed Clark AJ, Barnetson R, Farrington SM, Dunlop MG: Prognosis in DNA mismatch repair deficient colorectal cancer: are all MSI tumours equivalent? Fam Cancer 2004, 3: 85–91.PubMed
108.
go back to reference Popat S, Hubner R, Houlston RS: Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 2005, 23: 609–618.PubMed Popat S, Hubner R, Houlston RS: Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 2005, 23: 609–618.PubMed
109.
go back to reference Guastadisegni C, Colafranceschi M, Ottini L, Dogliotti E: Microsatellite instability as a marker of prognosis and response to therapy: a meta-analysis of colorectal cancer survival data. Eur J Cancer 2010, 46: 2788–2798. 10.1016/j.ejca.2010.05.009PubMed Guastadisegni C, Colafranceschi M, Ottini L, Dogliotti E: Microsatellite instability as a marker of prognosis and response to therapy: a meta-analysis of colorectal cancer survival data. Eur J Cancer 2010, 46: 2788–2798. 10.1016/j.ejca.2010.05.009PubMed
110.
go back to reference Hewish M, Lord CJ, Martin SA, Cunningham D, Ashworth A: Mismatch repair deficient colorectal cancer in the era of personalized treatment. Nat Rev Clin Oncol 2010, 7: 197–208. 10.1038/nrclinonc.2010.18PubMed Hewish M, Lord CJ, Martin SA, Cunningham D, Ashworth A: Mismatch repair deficient colorectal cancer in the era of personalized treatment. Nat Rev Clin Oncol 2010, 7: 197–208. 10.1038/nrclinonc.2010.18PubMed
111.
go back to reference Laghi L, Bianchi P, Malesci A: Differences and evolution of the methods for the assessment of microsatellite instability. Oncogene 2008, 27: 6313–6321. 10.1038/onc.2008.217PubMed Laghi L, Bianchi P, Malesci A: Differences and evolution of the methods for the assessment of microsatellite instability. Oncogene 2008, 27: 6313–6321. 10.1038/onc.2008.217PubMed
112.
go back to reference Perucho M: Correspondence re: C.R. Boland et al., A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res., 58: 5248–5257, 1998. Cancer Res 1999, 59: 249–256.PubMed Perucho M: Correspondence re: C.R. Boland et al., A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res., 58: 5248–5257, 1998. Cancer Res 1999, 59: 249–256.PubMed
113.
go back to reference Vilar E, Scaltriti M, Balmaña J, Saura C, Guzman M, Arribas J, Baselga J, Tabernero J: Microsatellite instability due to hMLH1 deficiency is associated with increased cytotoxicity to irinotecan in human colorectal cancer cell lines. Br J Cancer 2008, 99: 1607–1612. 10.1038/sj.bjc.6604691PubMedPubMedCentral Vilar E, Scaltriti M, Balmaña J, Saura C, Guzman M, Arribas J, Baselga J, Tabernero J: Microsatellite instability due to hMLH1 deficiency is associated with increased cytotoxicity to irinotecan in human colorectal cancer cell lines. Br J Cancer 2008, 99: 1607–1612. 10.1038/sj.bjc.6604691PubMedPubMedCentral
114.
go back to reference Martin SA, McCarthy A, Barber LJ, Burgess DJ, Parry S, Lord CJ, Ashworth A: Methotrexate induces oxidative DNA damage and is selectively lethal to tumour cells with defects in the DNA mismatch repair gene MSH2. EMBO Mol Med 2009, 1: 323–337. 10.1002/emmm.200900040PubMedPubMedCentral Martin SA, McCarthy A, Barber LJ, Burgess DJ, Parry S, Lord CJ, Ashworth A: Methotrexate induces oxidative DNA damage and is selectively lethal to tumour cells with defects in the DNA mismatch repair gene MSH2. EMBO Mol Med 2009, 1: 323–337. 10.1002/emmm.200900040PubMedPubMedCentral
115.
go back to reference Valentini AM, Armentano R, Pirrelli M, Caruso ML: Chemotherapeutic agents for colorectal cancer with a defective mismatch repair system: the state of the art. Cancer Treat Rev 2006, 32: 607–618. 10.1016/j.ctrv.2006.08.001PubMed Valentini AM, Armentano R, Pirrelli M, Caruso ML: Chemotherapeutic agents for colorectal cancer with a defective mismatch repair system: the state of the art. Cancer Treat Rev 2006, 32: 607–618. 10.1016/j.ctrv.2006.08.001PubMed
116.
go back to reference Papouli E, Cejka P, Jiricny J: Dependence of the cytotoxicity of DNA-damaging agents on the mismatch repair status of human cells. Cancer Res 2004, 64: 3391–3394. 10.1158/0008-5472.CAN-04-0513PubMed Papouli E, Cejka P, Jiricny J: Dependence of the cytotoxicity of DNA-damaging agents on the mismatch repair status of human cells. Cancer Res 2004, 64: 3391–3394. 10.1158/0008-5472.CAN-04-0513PubMed
117.
go back to reference Yamane K, Schupp JE, Kinsella TJ: BRCA1 activates a G2-M cell cycle checkpoint following 6-thioguanine-induced DNA mismatch damage. Cancer Res 2007, 67: 6286–6292. 10.1158/0008-5472.CAN-06-2205PubMed Yamane K, Schupp JE, Kinsella TJ: BRCA1 activates a G2-M cell cycle checkpoint following 6-thioguanine-induced DNA mismatch damage. Cancer Res 2007, 67: 6286–6292. 10.1158/0008-5472.CAN-06-2205PubMed
118.
go back to reference Fink D, Zheng H, Nebel S, Norris PS, Aebi S, Lin TP, Nehmé A, Christen RD, Haas M, MacLeod CL, Howell SB: In vitro and in vivo resistance to cisplatin in cells that have lost DNA mismatch repair. Cancer Res 1997, 57: 1841–1845.PubMed Fink D, Zheng H, Nebel S, Norris PS, Aebi S, Lin TP, Nehmé A, Christen RD, Haas M, MacLeod CL, Howell SB: In vitro and in vivo resistance to cisplatin in cells that have lost DNA mismatch repair. Cancer Res 1997, 57: 1841–1845.PubMed
119.
go back to reference Martin SA, Hewish M, Sims D, Lord CJ, Ashworth A: Parallel high throughput RNA interference screens identify PINK1 as a potential therapeutic target for the treatment of DNA mismatch repair deficient cancers. Cancer Res 2011, 71: 1836–1848. 10.1158/0008-5472.CAN-10-2836PubMed Martin SA, Hewish M, Sims D, Lord CJ, Ashworth A: Parallel high throughput RNA interference screens identify PINK1 as a potential therapeutic target for the treatment of DNA mismatch repair deficient cancers. Cancer Res 2011, 71: 1836–1848. 10.1158/0008-5472.CAN-10-2836PubMed
120.
go back to reference Martin SA, McCabe N, Mullarkey M, Cummins R, Burgess DJ, Nakabeppu Y, Oka S, Kay E, Lord CJ, Ashworth A: DNA polymerases as potential therapeutic targets for cancers deficient in the DNA mismatch repair proteins MSH2 or MLH1. Cancer Cell 2010, 17: 235–248. 10.1016/j.ccr.2009.12.046PubMedPubMedCentral Martin SA, McCabe N, Mullarkey M, Cummins R, Burgess DJ, Nakabeppu Y, Oka S, Kay E, Lord CJ, Ashworth A: DNA polymerases as potential therapeutic targets for cancers deficient in the DNA mismatch repair proteins MSH2 or MLH1. Cancer Cell 2010, 17: 235–248. 10.1016/j.ccr.2009.12.046PubMedPubMedCentral
121.
go back to reference des Guetz G, Schischmanoff O, Nicolas P, Perret GY, Morere JF, Uzzan B: Does microsatellite instability predict the efficacy of adjuvant chemotherapy in colorectal cancer? A systematic review with meta-analysis. Eur J Cancer 2009, 45: 1890–1896. 10.1016/j.ejca.2009.04.018PubMed des Guetz G, Schischmanoff O, Nicolas P, Perret GY, Morere JF, Uzzan B: Does microsatellite instability predict the efficacy of adjuvant chemotherapy in colorectal cancer? A systematic review with meta-analysis. Eur J Cancer 2009, 45: 1890–1896. 10.1016/j.ejca.2009.04.018PubMed
122.
go back to reference Ribic CM, Sargent DJ, Moore MJ, Thibodeau SN, French AJ, Goldberg RM, Hamilton SR, Laurent-Puig P, Gryfe R, Shepherd LE, Tu D, Redston M, Gallinger S: Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 2003, 349: 247–257. 10.1056/NEJMoa022289PubMedPubMedCentral Ribic CM, Sargent DJ, Moore MJ, Thibodeau SN, French AJ, Goldberg RM, Hamilton SR, Laurent-Puig P, Gryfe R, Shepherd LE, Tu D, Redston M, Gallinger S: Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 2003, 349: 247–257. 10.1056/NEJMoa022289PubMedPubMedCentral
123.
go back to reference Sargent DJ, Marsoni S, Monges G, Thibodeau SN, Labianca R, Hamilton SR, French AJ, Kabat B, Foster NR, Torri V, Ribic C, Grothey A, Moore M, Zaniboni A, Seitz JF, Sinicrope F, Gallinger S: Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol 2010, 28: 3219–3226. 10.1200/JCO.2009.27.1825PubMedPubMedCentral Sargent DJ, Marsoni S, Monges G, Thibodeau SN, Labianca R, Hamilton SR, French AJ, Kabat B, Foster NR, Torri V, Ribic C, Grothey A, Moore M, Zaniboni A, Seitz JF, Sinicrope F, Gallinger S: Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol 2010, 28: 3219–3226. 10.1200/JCO.2009.27.1825PubMedPubMedCentral
124.
go back to reference de Vos tot Nederveen Cappel WH, Meulenbeld HJ, Kleibeuker JH, Nagengast FM, Menko FH, Griffioen G, Cats A, Morreau H, Gelderblom H, Vasen HF: Survival after adjuvant 5-FU treatment for stage III colon cancer in hereditary nonpolyposis colorectal cancer. Int J Cancer 2004, 109: 468–471. 10.1002/ijc.11712PubMed de Vos tot Nederveen Cappel WH, Meulenbeld HJ, Kleibeuker JH, Nagengast FM, Menko FH, Griffioen G, Cats A, Morreau H, Gelderblom H, Vasen HF: Survival after adjuvant 5-FU treatment for stage III colon cancer in hereditary nonpolyposis colorectal cancer. Int J Cancer 2004, 109: 468–471. 10.1002/ijc.11712PubMed
125.
go back to reference Sinicrope FA, Sargent DJ: Clinical implications of microsatellite instability in sporadic colon cancers. Curr Opin Oncol 2009, 21: 369–373. 10.1097/CCO.0b013e32832c94bdPubMedPubMedCentral Sinicrope FA, Sargent DJ: Clinical implications of microsatellite instability in sporadic colon cancers. Curr Opin Oncol 2009, 21: 369–373. 10.1097/CCO.0b013e32832c94bdPubMedPubMedCentral
126.
go back to reference de la Chapelle A, Hampel H: Clinical relevance of microsatellite instability in colorectal cancer. J Clin Oncol 2010, 28: 3380–3387. 10.1200/JCO.2009.27.0652PubMedPubMedCentral de la Chapelle A, Hampel H: Clinical relevance of microsatellite instability in colorectal cancer. J Clin Oncol 2010, 28: 3380–3387. 10.1200/JCO.2009.27.0652PubMedPubMedCentral
127.
go back to reference Kim ST, Lee J, Park SH, Park JO, Lim HY, Kang WK, Kim JY, Kim YH, Chang DK, Rhee PL, Kim DS, Yun H, Cho YB, Kim HC, Yun SH, Lee WY, Chun HK, Park YS: Clinical impact of microsatellite instability in colon cancer following adjuvant FOLFOX therapy. Cancer Chemother Pharmacol 2010, 66: 659–667. 10.1007/s00280-009-1206-3PubMed Kim ST, Lee J, Park SH, Park JO, Lim HY, Kang WK, Kim JY, Kim YH, Chang DK, Rhee PL, Kim DS, Yun H, Cho YB, Kim HC, Yun SH, Lee WY, Chun HK, Park YS: Clinical impact of microsatellite instability in colon cancer following adjuvant FOLFOX therapy. Cancer Chemother Pharmacol 2010, 66: 659–667. 10.1007/s00280-009-1206-3PubMed
128.
go back to reference Zaanan A, Cuilliere-Dartigues P, Guilloux A, Parc Y, Louvet C, de Gramont A, Tiret E, Dumont S, Gayet B, Validire P, Fléjou JF, Duval A, Praz F: Impact of p53 expression and microsatellite instability on stage III colon cancer disease-free survival in patients treated by 5-fluorouracil and leucovorin with or without oxaliplatin. Ann Oncol 2010, 21: 772–780. 10.1093/annonc/mdp383PubMed Zaanan A, Cuilliere-Dartigues P, Guilloux A, Parc Y, Louvet C, de Gramont A, Tiret E, Dumont S, Gayet B, Validire P, Fléjou JF, Duval A, Praz F: Impact of p53 expression and microsatellite instability on stage III colon cancer disease-free survival in patients treated by 5-fluorouracil and leucovorin with or without oxaliplatin. Ann Oncol 2010, 21: 772–780. 10.1093/annonc/mdp383PubMed
129.
go back to reference Bertagnolli MM, Niedzwiecki D, Compton CC, Hahn HP, Hall M, Damas B, Jewell SD, Mayer RJ, Goldberg RM, Saltz LB, Warren RS, Redston M: Microsatellite instability predicts improved response to adjuvant therapy with irinotecan, fluorouracil, and leucovorin in stage III colon cancer: Cancer and Leukemia Group B Protocol 89803. J Clin Oncol 2009, 27: 1814–1821. 10.1200/JCO.2008.18.2071PubMedPubMedCentral Bertagnolli MM, Niedzwiecki D, Compton CC, Hahn HP, Hall M, Damas B, Jewell SD, Mayer RJ, Goldberg RM, Saltz LB, Warren RS, Redston M: Microsatellite instability predicts improved response to adjuvant therapy with irinotecan, fluorouracil, and leucovorin in stage III colon cancer: Cancer and Leukemia Group B Protocol 89803. J Clin Oncol 2009, 27: 1814–1821. 10.1200/JCO.2008.18.2071PubMedPubMedCentral
130.
go back to reference Liang JT, Huang KC, Lai HS, Lee PH, Cheng YM, Hsu HC, Cheng AL, Hsu CH, Yeh KH, Wang SM, Tang C, Chang KJ: High-frequency microsatellite instability predicts better chemosensitivity to high-dose 5-fluorouracil plus leucovorin chemotherapy for stage IV sporadic colorectal cancer after palliative bowel resection. Int J Cancer 2002, 101: 519–525. 10.1002/ijc.10643PubMed Liang JT, Huang KC, Lai HS, Lee PH, Cheng YM, Hsu HC, Cheng AL, Hsu CH, Yeh KH, Wang SM, Tang C, Chang KJ: High-frequency microsatellite instability predicts better chemosensitivity to high-dose 5-fluorouracil plus leucovorin chemotherapy for stage IV sporadic colorectal cancer after palliative bowel resection. Int J Cancer 2002, 101: 519–525. 10.1002/ijc.10643PubMed
131.
go back to reference Brueckl WM, Moesch C, Brabletz T, Koebnick C, Riedel C, Jung A, Merkel S, Schaber S, Boxberger F, Kirchner T, Hohenberger W, Hahn EG, Wein A: Relationship between microsatellite instability, response and survival in palliative patients with colorectal cancer undergoing first-line chemotherapy. Anticancer Res 2003, 23: 1773–1777.PubMed Brueckl WM, Moesch C, Brabletz T, Koebnick C, Riedel C, Jung A, Merkel S, Schaber S, Boxberger F, Kirchner T, Hohenberger W, Hahn EG, Wein A: Relationship between microsatellite instability, response and survival in palliative patients with colorectal cancer undergoing first-line chemotherapy. Anticancer Res 2003, 23: 1773–1777.PubMed
132.
go back to reference des Guetz G, Mariani P, Cucherousset J, Benamoun M, Lagorce C, Sastre X, Le Toumelin P, Uzzan B, Perret GY, Morere JF, Breau JL, Fagard R, Schischmanoff PO: Microsatellite instability and sensitivitiy to FOLFOX treatment in metastatic colorectal cancer. Anticancer Res 2007, 27: 2715–2719.PubMed des Guetz G, Mariani P, Cucherousset J, Benamoun M, Lagorce C, Sastre X, Le Toumelin P, Uzzan B, Perret GY, Morere JF, Breau JL, Fagard R, Schischmanoff PO: Microsatellite instability and sensitivitiy to FOLFOX treatment in metastatic colorectal cancer. Anticancer Res 2007, 27: 2715–2719.PubMed
133.
go back to reference Müller CI, Schulmann K, Reinacher-Schick A, Andre N, Arnold D, Tannapfel A, Arkenau H, Hahn SA, Schmoll SH, Porschen R, Schmiegel W, Graeven U, AIO Colorectal Study Group: Predictive and prognostic value of microsatellite instability in patients with advanced colorectal cancer treated with a fluoropyrimidine and oxaliplatin containing first-line chemotherapy. A report of the AIO Colorectal Study Group. Int J Colorectal Dis 2008, 23: 1033–1039. 10.1007/s00384-008-0504-2PubMed Müller CI, Schulmann K, Reinacher-Schick A, Andre N, Arnold D, Tannapfel A, Arkenau H, Hahn SA, Schmoll SH, Porschen R, Schmiegel W, Graeven U, AIO Colorectal Study Group: Predictive and prognostic value of microsatellite instability in patients with advanced colorectal cancer treated with a fluoropyrimidine and oxaliplatin containing first-line chemotherapy. A report of the AIO Colorectal Study Group. Int J Colorectal Dis 2008, 23: 1033–1039. 10.1007/s00384-008-0504-2PubMed
134.
go back to reference Kim ST, Lee J, Park SH, Park JO, Lim HY, Kang WK, Kim JY, Kim YH, Chang DK, Rhee PL, Kim DS, Yun H, Cho YB, Kim HC, Yun SH, Chun HK, Lee WY, Park YS: The effect of DNA mismatch repair (MMR) status on oxaliplatin-based first-line chemotherapy as in recurrent or metastatic colon cancer. Med Oncol 2010, 27: 1277–1285. 10.1007/s12032-009-9374-xPubMed Kim ST, Lee J, Park SH, Park JO, Lim HY, Kang WK, Kim JY, Kim YH, Chang DK, Rhee PL, Kim DS, Yun H, Cho YB, Kim HC, Yun SH, Chun HK, Lee WY, Park YS: The effect of DNA mismatch repair (MMR) status on oxaliplatin-based first-line chemotherapy as in recurrent or metastatic colon cancer. Med Oncol 2010, 27: 1277–1285. 10.1007/s12032-009-9374-xPubMed
135.
go back to reference Fallik D, Borrini F, Boige V, Viguier J, Jacob S, Miquel C, Sabourin JC, Ducreux M, Praz F: Microsatellite instability is a predictive factor of the tumor response to irinotecan in patients with advanced colorectal cancer. Cancer Res 2003, 63: 5738–5744.PubMed Fallik D, Borrini F, Boige V, Viguier J, Jacob S, Miquel C, Sabourin JC, Ducreux M, Praz F: Microsatellite instability is a predictive factor of the tumor response to irinotecan in patients with advanced colorectal cancer. Cancer Res 2003, 63: 5738–5744.PubMed
136.
go back to reference Charara M, Edmonston TB, Burkholder S, Walters R, Anne P, Mitchell E, Fry R, Boman B, Rose D, Fishel R, Curran W, Palazzo J: Microsatellite status and cell cycle associated markers in rectal cancer patients undergoing a combined regimen of 5-FU and CPT-11 chemotherapy and radiotherapy. Anticancer Res 2004, 24: 3161–3167.PubMed Charara M, Edmonston TB, Burkholder S, Walters R, Anne P, Mitchell E, Fry R, Boman B, Rose D, Fishel R, Curran W, Palazzo J: Microsatellite status and cell cycle associated markers in rectal cancer patients undergoing a combined regimen of 5-FU and CPT-11 chemotherapy and radiotherapy. Anticancer Res 2004, 24: 3161–3167.PubMed
137.
go back to reference Bendardaf R, Lamlum H, Ristamäki R, Korkeila E, Syrjänen K, Pyrhönen S: Mismatch repair status is a predictive factor of tumour response to 5-fluorouracil and irinotecan chemotherapy in patients with advanced colorectal cancer. Tumour Biol 2007, 28: 212–220. 10.1159/000107417PubMed Bendardaf R, Lamlum H, Ristamäki R, Korkeila E, Syrjänen K, Pyrhönen S: Mismatch repair status is a predictive factor of tumour response to 5-fluorouracil and irinotecan chemotherapy in patients with advanced colorectal cancer. Tumour Biol 2007, 28: 212–220. 10.1159/000107417PubMed
138.
go back to reference Kim JE, Hong YS, Ryu MH, Lee JL, Chang HM, Lim SB, Kim JH, Jang SJ, Kim MJ, Yu CS, Kang YK, Kim JC, Kim TW: Association between deficient mismatch repair system and efficacy to irinotecan-containing chemotherapy in metastatic colon cancer. Cancer Sci 2011, in press. Kim JE, Hong YS, Ryu MH, Lee JL, Chang HM, Lim SB, Kim JH, Jang SJ, Kim MJ, Yu CS, Kang YK, Kim JC, Kim TW: Association between deficient mismatch repair system and efficacy to irinotecan-containing chemotherapy in metastatic colon cancer. Cancer Sci 2011, in press.
139.
go back to reference Burn J, Bishop DT, Mecklin JP, Macrae F, Möslein G, Olschwang S, Bisgaard ML, Ramesar R, Eccles D, Maher ER, Bertario L, Jarvinen HJ, Lindblom A, Evans DG, Lubinski J, Morrison PJ, Ho JW, Vasen HF, Side L, Thomas HJ, Scott RJ, Dunlop M, Barker G, Elliott F, Jass JR, Fodde R, Lynch HT, Mathers JC, CAPP2 Investigators: Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med 2008, 359: 2567–2578. 10.1056/NEJMoa0801297PubMed Burn J, Bishop DT, Mecklin JP, Macrae F, Möslein G, Olschwang S, Bisgaard ML, Ramesar R, Eccles D, Maher ER, Bertario L, Jarvinen HJ, Lindblom A, Evans DG, Lubinski J, Morrison PJ, Ho JW, Vasen HF, Side L, Thomas HJ, Scott RJ, Dunlop M, Barker G, Elliott F, Jass JR, Fodde R, Lynch HT, Mathers JC, CAPP2 Investigators: Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med 2008, 359: 2567–2578. 10.1056/NEJMoa0801297PubMed
140.
141.
go back to reference Steinbach G, Lynch PM, Phillips RK, Wallace MH, Hawk E, Gordon GB, Wakabayashi N, Saunders B, Shen Y, Fujimura T, Su LK, Levin B: The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med 2000, 342: 1946–1952. 10.1056/NEJM200006293422603PubMed Steinbach G, Lynch PM, Phillips RK, Wallace MH, Hawk E, Gordon GB, Wakabayashi N, Saunders B, Shen Y, Fujimura T, Su LK, Levin B: The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med 2000, 342: 1946–1952. 10.1056/NEJM200006293422603PubMed
142.
go back to reference Bertagnolli MM, Eagle CJ, Zauber AG, Redston M, Breazna A, Kim K, Tang J, Rosenstein RB, Umar A, Bagheri D, Collins NT, Burn J, Chung DC, Dewar T, Foley TR, Hoffman N, Macrae F, Pruitt RE, Saltzman JR, Salzberg B, Sylwestrowicz T, Hawk ET, Adenoma Prevention with Celecoxib Study Investigators: Five-year efficacy and safety analysis of the Adenoma Prevention with Celecoxib Trial. Cancer Prev Res (Phila) 2009, 2: 310–321. 10.1158/1940-6207.CAPR-08-0206 Bertagnolli MM, Eagle CJ, Zauber AG, Redston M, Breazna A, Kim K, Tang J, Rosenstein RB, Umar A, Bagheri D, Collins NT, Burn J, Chung DC, Dewar T, Foley TR, Hoffman N, Macrae F, Pruitt RE, Saltzman JR, Salzberg B, Sylwestrowicz T, Hawk ET, Adenoma Prevention with Celecoxib Study Investigators: Five-year efficacy and safety analysis of the Adenoma Prevention with Celecoxib Trial. Cancer Prev Res (Phila) 2009, 2: 310–321. 10.1158/1940-6207.CAPR-08-0206
143.
go back to reference Vasen HF, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Järvinen H, Mecklin JP, Møller P, Myrhøi T, Nagengast FM, Parc Y, Phillips R, Clark SK, de Leon MP, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, et al.: Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008, 57: 704–713. 10.1136/gut.2007.136127PubMed Vasen HF, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Järvinen H, Mecklin JP, Møller P, Myrhøi T, Nagengast FM, Parc Y, Phillips R, Clark SK, de Leon MP, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, et al.: Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008, 57: 704–713. 10.1136/gut.2007.136127PubMed
144.
go back to reference Frank-Raue K, Rondot S, Raue F: Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC. Mol Cell Endocrinol 2010, 322: 2–7. 10.1016/j.mce.2010.01.012PubMed Frank-Raue K, Rondot S, Raue F: Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC. Mol Cell Endocrinol 2010, 322: 2–7. 10.1016/j.mce.2010.01.012PubMed
145.
go back to reference Carlomagno F, Vitagliano D, Guida T, Ciardiello F, Tortora G, Vecchio G, Ryan AJ, Fontanini G, Fusco A, Santoro M: ZD6474, an orally available inhibitor of KDR tyrosine kinase activity, efficiently blocks oncogenic RET kinases. Cancer Res 2002, 62: 7284–7290.PubMed Carlomagno F, Vitagliano D, Guida T, Ciardiello F, Tortora G, Vecchio G, Ryan AJ, Fontanini G, Fusco A, Santoro M: ZD6474, an orally available inhibitor of KDR tyrosine kinase activity, efficiently blocks oncogenic RET kinases. Cancer Res 2002, 62: 7284–7290.PubMed
146.
go back to reference Wells SA Jr, Gosnell JE, Gagel RF, Moley J, Pfister D, Sosa JA, Skinner M, Krebs A, Vasselli J, Schlumberger M: Vandetanib for the treatment of patients with locally advanced or metastatic hereditary medullary thyroid cancer. J Clin Oncol 2010, 10: 767–772. Wells SA Jr, Gosnell JE, Gagel RF, Moley J, Pfister D, Sosa JA, Skinner M, Krebs A, Vasselli J, Schlumberger M: Vandetanib for the treatment of patients with locally advanced or metastatic hereditary medullary thyroid cancer. J Clin Oncol 2010, 10: 767–772.
147.
go back to reference Robinson BG, Paz-Ares L, Krebs A, Vasselli J, Haddad R: Vandetanib (100 mg) in patients with locally advanced or metastatic hereditary medullary thyroid cancer. J Clin Endocrinol Metab 2010, 95: 2664–2671. 10.1210/jc.2009-2461PubMedPubMedCentral Robinson BG, Paz-Ares L, Krebs A, Vasselli J, Haddad R: Vandetanib (100 mg) in patients with locally advanced or metastatic hereditary medullary thyroid cancer. J Clin Endocrinol Metab 2010, 95: 2664–2671. 10.1210/jc.2009-2461PubMedPubMedCentral
148.
go back to reference Quinn JE, James CR, Stewart GE, Mulligan JM, White P, Chang GK, Mullan PB, Johnston PG, Wilson RH, Harkin DP: BRCA1 mRNA expression levels predict for overall survival in ovarian cancer after chemotherapy. Clin Cancer Res 2007, 13: 7413–7420. 10.1158/1078-0432.CCR-07-1083PubMed Quinn JE, James CR, Stewart GE, Mulligan JM, White P, Chang GK, Mullan PB, Johnston PG, Wilson RH, Harkin DP: BRCA1 mRNA expression levels predict for overall survival in ovarian cancer after chemotherapy. Clin Cancer Res 2007, 13: 7413–7420. 10.1158/1078-0432.CCR-07-1083PubMed
149.
go back to reference Rosell R, Perez-Roca L, Sanchez JJ, Cobo M, Moran T, Chaib I, Provencio M, Domine M, Sala MA, Jimenez U, Diz P, Barneto I, Macias JA, de Las Peñas R, Catot S, Isla D, Sanchez JM, Ibeas R, Lopez-Vivanco G, Oramas J, Mendez P, Reguart N, Blanco R, Taron M: Customized treatment in non-small-cell lung cancer based on EGFR mutations and BRCA1 mRNA expression. PLoS One 2009, 4: e5133. 10.1371/journal.pone.0005133PubMedPubMedCentral Rosell R, Perez-Roca L, Sanchez JJ, Cobo M, Moran T, Chaib I, Provencio M, Domine M, Sala MA, Jimenez U, Diz P, Barneto I, Macias JA, de Las Peñas R, Catot S, Isla D, Sanchez JM, Ibeas R, Lopez-Vivanco G, Oramas J, Mendez P, Reguart N, Blanco R, Taron M: Customized treatment in non-small-cell lung cancer based on EGFR mutations and BRCA1 mRNA expression. PLoS One 2009, 4: e5133. 10.1371/journal.pone.0005133PubMedPubMedCentral
150.
go back to reference Font A, Taron M, Gago JL, Costa C, Sánchez JJ, Carrato C, Mora M, Celiz P, Perez L, Rodríguez D, Gimenez-Capitan A, Quiroga V, Benlloch S, Ibarz L, Rosell R: BRCA1 mRNA expression and outcome to neoadjuvant cisplatin-based chemotherapy in bladder cancer. Ann Oncol 2011, 22: 139–144.PubMed Font A, Taron M, Gago JL, Costa C, Sánchez JJ, Carrato C, Mora M, Celiz P, Perez L, Rodríguez D, Gimenez-Capitan A, Quiroga V, Benlloch S, Ibarz L, Rosell R: BRCA1 mRNA expression and outcome to neoadjuvant cisplatin-based chemotherapy in bladder cancer. Ann Oncol 2011, 22: 139–144.PubMed
151.
go back to reference Su C, Zhou S, Zhang L, Ren S, Xu J, Zhang J, Lv M, Zhang J, Zhou C: ERCC1, RRM1 and BRCA1 mRNA expression levels and clinical outcome of advanced non-small cell lung cancer. Med Oncol, in press. Su C, Zhou S, Zhang L, Ren S, Xu J, Zhang J, Lv M, Zhang J, Zhou C: ERCC1, RRM1 and BRCA1 mRNA expression levels and clinical outcome of advanced non-small cell lung cancer. Med Oncol, in press.
152.
go back to reference Papadaki C, Tsaroucha E, Kaklamanis L, Lagoudaki E, Trypaki M, Tryfonidis K, Mavroudis D, Stathopoulos E, Georgoulias V, Souglakos J: Correlation of BRCA1, TXR1 and TSP1 mRNA expression with treatment outcome to docetaxel-based first-line chemotherapy in patients with advanced/metastatic non-small-cell lung cancer. Br J Cancer 2011, 104: 316–323. 10.1038/sj.bjc.6606027PubMed Papadaki C, Tsaroucha E, Kaklamanis L, Lagoudaki E, Trypaki M, Tryfonidis K, Mavroudis D, Stathopoulos E, Georgoulias V, Souglakos J: Correlation of BRCA1, TXR1 and TSP1 mRNA expression with treatment outcome to docetaxel-based first-line chemotherapy in patients with advanced/metastatic non-small-cell lung cancer. Br J Cancer 2011, 104: 316–323. 10.1038/sj.bjc.6606027PubMed
153.
go back to reference Holstege H, Horlings HM, Velds A, Langerød A, Børresen-Dale AL, van de Vijver MJ, Nederlof PM, Jonkers J: BRCA1-mutated and basal-like breast cancers have similar aCGH profiles and a high incidence of protein truncating TP53 mutations. BMC Cancer 2010, 10: 654. 10.1186/1471-2407-10-654PubMedPubMedCentral Holstege H, Horlings HM, Velds A, Langerød A, Børresen-Dale AL, van de Vijver MJ, Nederlof PM, Jonkers J: BRCA1-mutated and basal-like breast cancers have similar aCGH profiles and a high incidence of protein truncating TP53 mutations. BMC Cancer 2010, 10: 654. 10.1186/1471-2407-10-654PubMedPubMedCentral
154.
go back to reference Vollebergh MA, Lips EH, Nederlof PM, Wessels LF, Schmidt MK, van Beers EH, Cornelissen S, Holtkamp M, Froklage FE, de Vries EG, Schrama JG, Wesseling J, van de Vijver MJ, van Tinteren H, de Bruin M, Hauptmann M, Rodenhuis S, Linn SC: An aCGH classifier derived from BRCA1-mutated breast cancer and benefit of high-dose platinum-based chemotherapy in HER2-negative breast cancer patients. Ann Oncol 2011, 22: 1561–1570. 10.1093/annonc/mdq624PubMed Vollebergh MA, Lips EH, Nederlof PM, Wessels LF, Schmidt MK, van Beers EH, Cornelissen S, Holtkamp M, Froklage FE, de Vries EG, Schrama JG, Wesseling J, van de Vijver MJ, van Tinteren H, de Bruin M, Hauptmann M, Rodenhuis S, Linn SC: An aCGH classifier derived from BRCA1-mutated breast cancer and benefit of high-dose platinum-based chemotherapy in HER2-negative breast cancer patients. Ann Oncol 2011, 22: 1561–1570. 10.1093/annonc/mdq624PubMed
155.
go back to reference Gallmeier E, Kern SE: Absence of specific cell killing of the BRCA2-deficient human cancer cell line CAPAN1 by poly(ADP-ribose) polymerase inhibition. Cancer Biol Ther 2005, 4: 703–706. 10.4161/cbt.4.7.1909PubMed Gallmeier E, Kern SE: Absence of specific cell killing of the BRCA2-deficient human cancer cell line CAPAN1 by poly(ADP-ribose) polymerase inhibition. Cancer Biol Ther 2005, 4: 703–706. 10.4161/cbt.4.7.1909PubMed
156.
go back to reference Kloos I, Delaloge S, Chompret A, Noguès C, Bressac de Paillerets B, Spielmann M: BRCA1/2-linked breast carcinoma is a highly chemosensitive disease. Proc Am Soc Clin Oncol 2001, 20: abstract 1862. Kloos I, Delaloge S, Chompret A, Noguès C, Bressac de Paillerets B, Spielmann M: BRCA1/2-linked breast carcinoma is a highly chemosensitive disease. Proc Am Soc Clin Oncol 2001, 20: abstract 1862.
157.
go back to reference Melichar B, Fridrichová P, Lukesová S, Mergancová J, Urminská H, Ryska A, Foretová L: Pathological complete response after primary chemotherapy in a mother and daughter with hereditary breast carcinoma: two case reports. Eur J Gynaecol Oncol 2008, 29: 188–190.PubMed Melichar B, Fridrichová P, Lukesová S, Mergancová J, Urminská H, Ryska A, Foretová L: Pathological complete response after primary chemotherapy in a mother and daughter with hereditary breast carcinoma: two case reports. Eur J Gynaecol Oncol 2008, 29: 188–190.PubMed
158.
go back to reference Rhiem K, Wappenschmidt B, Bosse K, Köppler H, Tutt AN, Schmutzler RK: Platinum sensitivity in a BRCA1 mutation carrier with advanced breast cancer. Clin Oncol (R Coll Radiol) 2009, 21: 448–450. Rhiem K, Wappenschmidt B, Bosse K, Köppler H, Tutt AN, Schmutzler RK: Platinum sensitivity in a BRCA1 mutation carrier with advanced breast cancer. Clin Oncol (R Coll Radiol) 2009, 21: 448–450.
159.
go back to reference Byrski T, Huzarski T, Dent R, Gronwald J, Zuziak D, Cybulski C, Kladny J, Gorski B, Lubinski J, Narod SA: Response to neoadjuvant therapy with cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res Treat 2009, 115: 359–363. 10.1007/s10549-008-0128-9PubMed Byrski T, Huzarski T, Dent R, Gronwald J, Zuziak D, Cybulski C, Kladny J, Gorski B, Lubinski J, Narod SA: Response to neoadjuvant therapy with cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res Treat 2009, 115: 359–363. 10.1007/s10549-008-0128-9PubMed
160.
go back to reference Byrski T, Gronwald J, Huzarski T, Grzybowska E, Budryk M, Stawicka M, Mierzwa T, Szwiec M, Wi÷niowski R, Siolek M, Narod SA, Lubinski J, Polish Hereditary Breast Cancer Consortium: Response to neo-adjuvant chemotherapy in women with BRCA1-positive breast cancers. Breast Cancer Res Treat 2008, 108: 289–296. 10.1007/s10549-007-9600-1PubMed Byrski T, Gronwald J, Huzarski T, Grzybowska E, Budryk M, Stawicka M, Mierzwa T, Szwiec M, Wi÷niowski R, Siolek M, Narod SA, Lubinski J, Polish Hereditary Breast Cancer Consortium: Response to neo-adjuvant chemotherapy in women with BRCA1-positive breast cancers. Breast Cancer Res Treat 2008, 108: 289–296. 10.1007/s10549-007-9600-1PubMed
161.
go back to reference Leunen K, Cadron I, Van Gorp T, Amant F, Berteloot P, Neven P, Legius E, Vergote I: Does paclitaxel-carboplatin chemotherapy in a dose-dense regimen enhance survival of BRCA-related ovarian cancer patients? Int J Gynecol Cancer 2009, 19: 1501–154. 10.1111/IGC.0b013e3181bb703fPubMed Leunen K, Cadron I, Van Gorp T, Amant F, Berteloot P, Neven P, Legius E, Vergote I: Does paclitaxel-carboplatin chemotherapy in a dose-dense regimen enhance survival of BRCA-related ovarian cancer patients? Int J Gynecol Cancer 2009, 19: 1501–154. 10.1111/IGC.0b013e3181bb703fPubMed
Metadata
Title
Drug therapy for hereditary cancers
Authors
Evgeny N Imyanitov
Vladimir M Moiseyenko
Publication date
01-12-2011
Publisher
BioMed Central
Published in
Hereditary Cancer in Clinical Practice / Issue 1/2011
Electronic ISSN: 1897-4287
DOI
https://doi.org/10.1186/1897-4287-9-5

Other articles of this Issue 1/2011

Hereditary Cancer in Clinical Practice 1/2011 Go to the issue
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine