Skip to main content
Top
Published in: Breast Cancer Research 6/2008

01-12-2008 | Review

Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda

Authors: Bettina Meiser, Kathy Tucker, Michael Friedlander, Kristine Barlow-Stewart, Elizabeth Lobb, Christobel Saunders, Gillian Mitchell

Published in: Breast Cancer Research | Issue 6/2008

Login to get access

Abstract

Many women newly diagnosed with breast cancer and with a strong family history of breast cancer are referred to a family cancer service for genetic counselling and for consideration of genetic testing for germline mutations in cancer predisposition genes following completion of their cancer treatment. However, there is growing evidence that mutation status may influence treatment recommendations, and that there may be benefits in having 'treatment-focused genetic counselling and testing' available shortly after cancer diagnosis. This article reviews the literature that could inform the development of treatment-focused genetic counselling and testing, including: the rationale for genetic testing to aid with treatment decisions; the potential benefits of using mutation or risk status to tailor management; the criteria that may be used to identify patients most likely to carry germline mutations; and the evidence regarding women's decision-making regarding treatment-focused genetic counselling and testing and the associated psychological impact.
Literature
1.
go back to reference American Society of Clinical Oncology: American Society of Clinical Oncology Policy Statement. J Clin Oncol. 2003, 21: 2397-2406. 10.1200/JCO.2003.03.189.CrossRef American Society of Clinical Oncology: American Society of Clinical Oncology Policy Statement. J Clin Oncol. 2003, 21: 2397-2406. 10.1200/JCO.2003.03.189.CrossRef
2.
go back to reference Australian Cancer Network: Guidelines on Familial Aspects of Cancer. 1999, Sydney: Australian Cancer Network Australian Cancer Network: Guidelines on Familial Aspects of Cancer. 1999, Sydney: Australian Cancer Network
3.
go back to reference Mitchell G, Ardern-Jones A, Kissin Mchir M, Taylor R, Eeles RA, Mitchell G, Ardern-Jones A, Kissin Mchir M, Taylor R, Eeles RA: A paradox: Urgent BRCA genetic testing. Fam Cancer. 2001, 1: 25-29. 10.1023/A:1011570302078.CrossRefPubMed Mitchell G, Ardern-Jones A, Kissin Mchir M, Taylor R, Eeles RA, Mitchell G, Ardern-Jones A, Kissin Mchir M, Taylor R, Eeles RA: A paradox: Urgent BRCA genetic testing. Fam Cancer. 2001, 1: 25-29. 10.1023/A:1011570302078.CrossRefPubMed
4.
go back to reference Rubinstein W: Hereditary breast cancer: pathobiology, clinical translation, and potential for targeted cancer therapeutics. Fam Cancer. 2008, 7: 83-89. 10.1007/s10689-007-9147-7.CrossRefPubMed Rubinstein W: Hereditary breast cancer: pathobiology, clinical translation, and potential for targeted cancer therapeutics. Fam Cancer. 2008, 7: 83-89. 10.1007/s10689-007-9147-7.CrossRefPubMed
5.
go back to reference Silva E: Genetic counselling and clinical management of newly diagnosed breast cancer patients at genetic risk for BRCA germline mutations: Perspective of a surgical oncologist. Fam Cancer. 2008, 7: 91-95. 10.1007/s10689-007-9167-3.CrossRefPubMed Silva E: Genetic counselling and clinical management of newly diagnosed breast cancer patients at genetic risk for BRCA germline mutations: Perspective of a surgical oncologist. Fam Cancer. 2008, 7: 91-95. 10.1007/s10689-007-9167-3.CrossRefPubMed
6.
go back to reference Domcheck S, Weber B: Clinical management of BRCA1 and BRCA2 mutation carriers. Oncogene. 2006, 25: 5825-5831. 10.1038/sj.onc.1209881.CrossRef Domcheck S, Weber B: Clinical management of BRCA1 and BRCA2 mutation carriers. Oncogene. 2006, 25: 5825-5831. 10.1038/sj.onc.1209881.CrossRef
7.
go back to reference Smith C, Kricker A, Armstrong B: Breast cancer mortality trends in Australia: 1921 to 1994. Med J Australia. 1998, 168: 11-14.PubMed Smith C, Kricker A, Armstrong B: Breast cancer mortality trends in Australia: 1921 to 1994. Med J Australia. 1998, 168: 11-14.PubMed
8.
go back to reference Lean C, Bullivant C, Pagnini D, Tracey E, Hepburn A, Sinclair S, Bishop J: Review of cancer genetics services. Asia Pacific J Clin Oncol. 2007, 3 (Suppl 2): A63- Lean C, Bullivant C, Pagnini D, Tracey E, Hepburn A, Sinclair S, Bishop J: Review of cancer genetics services. Asia Pacific J Clin Oncol. 2007, 3 (Suppl 2): A63-
10.
go back to reference Iredale R, Elwyn G, Edwards A, Gray J: Attitudes of genetic clinicians in Wales to the future development of cancer genetics services. J Eval Clin Pract. 2007, 13: 86-89. 10.1111/j.1365-2753.2006.00657.x.CrossRefPubMed Iredale R, Elwyn G, Edwards A, Gray J: Attitudes of genetic clinicians in Wales to the future development of cancer genetics services. J Eval Clin Pract. 2007, 13: 86-89. 10.1111/j.1365-2753.2006.00657.x.CrossRefPubMed
11.
go back to reference Rennert G, Bisland-Naggan S, Barnett-Griness O, Bar-Joseph N, Zhang S, Rennert HS, Narod SA: Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations [see comment]. N Engl J Med. 2007, 357: 115-123. 10.1056/NEJMoa070608.CrossRefPubMed Rennert G, Bisland-Naggan S, Barnett-Griness O, Bar-Joseph N, Zhang S, Rennert HS, Narod SA: Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations [see comment]. N Engl J Med. 2007, 357: 115-123. 10.1056/NEJMoa070608.CrossRefPubMed
12.
go back to reference Weitzel JN, McCaffrey SM, Nedelcu R, MacDonald DJ, Blazer KR, Cullinane CA: Effect of genetic cancer risk assessment on surgical decisions at breast cancer diagnosis. Arch Surg. 2003, 138: 1323-1328. 10.1001/archsurg.138.12.1323. discussion 1329.CrossRefPubMed Weitzel JN, McCaffrey SM, Nedelcu R, MacDonald DJ, Blazer KR, Cullinane CA: Effect of genetic cancer risk assessment on surgical decisions at breast cancer diagnosis. Arch Surg. 2003, 138: 1323-1328. 10.1001/archsurg.138.12.1323. discussion 1329.CrossRefPubMed
13.
go back to reference Metcalfe K, Lynch HT, Ghadirian P, Tung N, Olivotto I, Warner E, Olopade OI, Eisen A, Weber B, McLennan J, Sun P, Foulkes WD, Narod SA: Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 2004, 22: 2328-2335. 10.1200/JCO.2004.04.033.CrossRefPubMed Metcalfe K, Lynch HT, Ghadirian P, Tung N, Olivotto I, Warner E, Olopade OI, Eisen A, Weber B, McLennan J, Sun P, Foulkes WD, Narod SA: Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 2004, 22: 2328-2335. 10.1200/JCO.2004.04.033.CrossRefPubMed
14.
go back to reference Pierce LJ, Levin AM, Rebbeck TR, Ben-David MA, Friedman E, Solin LJ, Harris EE, Gaffney DK, Haffty BG, Dawson LA, Narod SA, Olivotto IA, Eisen A, Whelan TJ, Olopade OI, Isaacs C, Merajver SD, Wong JS, Garber JE, Weber BL: Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer [see comment]. J Clin Oncol. 2006, 24: 2437-2443. 10.1200/JCO.2005.02.7888.CrossRefPubMed Pierce LJ, Levin AM, Rebbeck TR, Ben-David MA, Friedman E, Solin LJ, Harris EE, Gaffney DK, Haffty BG, Dawson LA, Narod SA, Olivotto IA, Eisen A, Whelan TJ, Olopade OI, Isaacs C, Merajver SD, Wong JS, Garber JE, Weber BL: Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer [see comment]. J Clin Oncol. 2006, 24: 2437-2443. 10.1200/JCO.2005.02.7888.CrossRefPubMed
15.
go back to reference Herrinton LJ, Barlow WE, Yu O, Geiger AM, Elmore JG, Barton MB, Harris EL, Rolnick S, Pardee R, Husson G, Macedo A, Fletcher SW: Efficacy of prophylactic mastectomy in women with unilateral breast cancer: a cancer research network project [see comment]. J Clin Oncol. 2005, 23: 4275-4286. 10.1200/JCO.2005.10.080.CrossRefPubMed Herrinton LJ, Barlow WE, Yu O, Geiger AM, Elmore JG, Barton MB, Harris EL, Rolnick S, Pardee R, Husson G, Macedo A, Fletcher SW: Efficacy of prophylactic mastectomy in women with unilateral breast cancer: a cancer research network project [see comment]. J Clin Oncol. 2005, 23: 4275-4286. 10.1200/JCO.2005.10.080.CrossRefPubMed
16.
go back to reference van Sprundel TC, Schmidt MK, Rookus MA, Brohet R, van Asperen CJ, Rutgers EJ, Van't Veer LJ, Tollenaar RA: Risk reduction of contralateral breast cancer and survival after contralateral prophylactic mastectomy in BRCA1 or BRCA2 mutation carriers. Br J Cancer. 2005, 93: 287-292. 10.1038/sj.bjc.6602703.CrossRefPubMedPubMedCentral van Sprundel TC, Schmidt MK, Rookus MA, Brohet R, van Asperen CJ, Rutgers EJ, Van't Veer LJ, Tollenaar RA: Risk reduction of contralateral breast cancer and survival after contralateral prophylactic mastectomy in BRCA1 or BRCA2 mutation carriers. Br J Cancer. 2005, 93: 287-292. 10.1038/sj.bjc.6602703.CrossRefPubMedPubMedCentral
17.
go back to reference McDonnell SK, Schaid DJ, Myers JL, Grant CS, Donohue JH, Woods JE, Frost MH, Johnson JL, Sitta DL, Slezak JM, Crotty TB, Jenkins RB, Sellers TA, Hartmann LC: Efficacy of contralateral prophylactic mastectomy in women with a personal and family history of breast cancer. J Clin Oncol. 2001, 19: 3938-3943.PubMed McDonnell SK, Schaid DJ, Myers JL, Grant CS, Donohue JH, Woods JE, Frost MH, Johnson JL, Sitta DL, Slezak JM, Crotty TB, Jenkins RB, Sellers TA, Hartmann LC: Efficacy of contralateral prophylactic mastectomy in women with a personal and family history of breast cancer. J Clin Oncol. 2001, 19: 3938-3943.PubMed
18.
go back to reference Heemskerk-Gerritsen BA, Brekelmans CT, Menke-Pluymers MB, van Geel AN, Tilanus-Linthorst MM, Bartels CC, Tan M, Meijers-Heijboer HE, Klijn JG, Seynaeve C: Prophylactic mastectomy in BRCA1/2 mutation carriers and women at risk of hereditary breast cancer: long-term experiences at the Rotterdam Family Cancer Clinic [see comment]. Ann Surg Oncol. 2007, 14: 3335-3344. 10.1245/s10434-007-9449-x.CrossRefPubMedPubMedCentral Heemskerk-Gerritsen BA, Brekelmans CT, Menke-Pluymers MB, van Geel AN, Tilanus-Linthorst MM, Bartels CC, Tan M, Meijers-Heijboer HE, Klijn JG, Seynaeve C: Prophylactic mastectomy in BRCA1/2 mutation carriers and women at risk of hereditary breast cancer: long-term experiences at the Rotterdam Family Cancer Clinic [see comment]. Ann Surg Oncol. 2007, 14: 3335-3344. 10.1245/s10434-007-9449-x.CrossRefPubMedPubMedCentral
19.
go back to reference Goldflam K, Hunt KK, Gershenwald JE, Singletary SE, Mirza N, Kuerer HM, Babiera GV, Ames FC, Ross MI, Feig BW, Sahin AA, Arun B, Meric-Bernstam F: Contralateral prophylactic mastectomy. Predictors of significant histologic findings. Cancer. 2004, 101: 1977-1986. 10.1002/cncr.20617.CrossRefPubMed Goldflam K, Hunt KK, Gershenwald JE, Singletary SE, Mirza N, Kuerer HM, Babiera GV, Ames FC, Ross MI, Feig BW, Sahin AA, Arun B, Meric-Bernstam F: Contralateral prophylactic mastectomy. Predictors of significant histologic findings. Cancer. 2004, 101: 1977-1986. 10.1002/cncr.20617.CrossRefPubMed
20.
go back to reference Loman N, Bladstrom A, Johannsson O, Borg A, Olsson H: Cancer incidence in relatives of a population-based set of cases of early-onset breast cancer with a known BRCA1 and BRCA2 mutation status. Breast Cancer Res. 2003, 5: R175-R186. 10.1186/bcr632.CrossRefPubMedPubMedCentral Loman N, Bladstrom A, Johannsson O, Borg A, Olsson H: Cancer incidence in relatives of a population-based set of cases of early-onset breast cancer with a known BRCA1 and BRCA2 mutation status. Breast Cancer Res. 2003, 5: R175-R186. 10.1186/bcr632.CrossRefPubMedPubMedCentral
21.
go back to reference Schwartz MD, Lerman C, Brogan B, Peshkin BN, Isaacs C, DeMarco T, Halbert CH, Pennanen M, Finch C: Utilization of BRCA1/BRCA2 mutation testing in newly diagnosed breast cancer patients. Cancer Epidemiol Biomarkers Prev. 2005, 14: 1003-1007. 10.1158/1055-9965.EPI-03-0545.CrossRefPubMed Schwartz MD, Lerman C, Brogan B, Peshkin BN, Isaacs C, DeMarco T, Halbert CH, Pennanen M, Finch C: Utilization of BRCA1/BRCA2 mutation testing in newly diagnosed breast cancer patients. Cancer Epidemiol Biomarkers Prev. 2005, 14: 1003-1007. 10.1158/1055-9965.EPI-03-0545.CrossRefPubMed
22.
go back to reference Tuttle TM, Habermann EB, Grund EH, Morris TJ, Virnig BA: Increasing use of contralateral prophylactic mastectomy for breast cancer patients: a trend toward more aggressive surgical treatment. J Clin Oncol. 2007, 25: 5203-5209. 10.1200/JCO.2007.12.3141.CrossRefPubMed Tuttle TM, Habermann EB, Grund EH, Morris TJ, Virnig BA: Increasing use of contralateral prophylactic mastectomy for breast cancer patients: a trend toward more aggressive surgical treatment. J Clin Oncol. 2007, 25: 5203-5209. 10.1200/JCO.2007.12.3141.CrossRefPubMed
23.
go back to reference Katipamula R, Hoskin TL, Boughey JC, Degnim AC, Grant CS, Brandt KR, Loprinzi CL, Pruthi S, MP G: Trends in mastectomy rates at the Mayo Clinic Rochester: Effect of surgical year and preoperative MRI. J Clin Oncol. 2008, 26 (Suppl): abstract 509- Katipamula R, Hoskin TL, Boughey JC, Degnim AC, Grant CS, Brandt KR, Loprinzi CL, Pruthi S, MP G: Trends in mastectomy rates at the Mayo Clinic Rochester: Effect of surgical year and preoperative MRI. J Clin Oncol. 2008, 26 (Suppl): abstract 509-
24.
go back to reference Evans DG, Lalloo F, Hopwood P, Maurice A, Baildam A, Brain A, Barr L, Howell A: Surgical decisions made by 158 women with hereditary breast cancer aged <50 years. Eur J Surg Oncol. 2005, 31: 1112-1118. 10.1016/j.ejso.2005.05.007.CrossRefPubMed Evans DG, Lalloo F, Hopwood P, Maurice A, Baildam A, Brain A, Barr L, Howell A: Surgical decisions made by 158 women with hereditary breast cancer aged <50 years. Eur J Surg Oncol. 2005, 31: 1112-1118. 10.1016/j.ejso.2005.05.007.CrossRefPubMed
25.
go back to reference Meijers-Heijboer H, Brekelmans CT, Menke-Pluymers M, Seynaeve C, Baalbergen A, Burger C, Crepin E, Ouweland van den AW, van Geel B, Klijn JG: Use of genetic testing and prophylactic mastectomy and oophorectomy in women with breast or ovarian cancer from families with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2003, 21: 1675-1681. 10.1200/JCO.2003.09.052.CrossRefPubMed Meijers-Heijboer H, Brekelmans CT, Menke-Pluymers M, Seynaeve C, Baalbergen A, Burger C, Crepin E, Ouweland van den AW, van Geel B, Klijn JG: Use of genetic testing and prophylactic mastectomy and oophorectomy in women with breast or ovarian cancer from families with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2003, 21: 1675-1681. 10.1200/JCO.2003.09.052.CrossRefPubMed
26.
go back to reference Schwartz M, Lerman C, Brogan B, Peshkin B, Hughes Halbert C, DeMarco T, Lawrence W, Main D, Finch C, Magnant C, Pennanen M, Tsangaris T, Willey S, Isaacs C: Impact of BRCA1/2 counseling and testing on newly diagnosed breast cancer patients. J Clin Oncol. 2004, 22: 1823-1829. 10.1200/JCO.2004.04.086.CrossRefPubMed Schwartz M, Lerman C, Brogan B, Peshkin B, Hughes Halbert C, DeMarco T, Lawrence W, Main D, Finch C, Magnant C, Pennanen M, Tsangaris T, Willey S, Isaacs C: Impact of BRCA1/2 counseling and testing on newly diagnosed breast cancer patients. J Clin Oncol. 2004, 22: 1823-1829. 10.1200/JCO.2004.04.086.CrossRefPubMed
27.
go back to reference Easton DF, Ford D, Bishop DT, the Breast Cancer Linkage Consortium: Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am J Hum Genet. 1995, 56: 265-271.CrossRefPubMedPubMedCentral Easton DF, Ford D, Bishop DT, the Breast Cancer Linkage Consortium: Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am J Hum Genet. 1995, 56: 265-271.CrossRefPubMedPubMedCentral
28.
go back to reference Kauff ND, Satagopan JM, Robson ME, Scheuer L, Hensley M, Hudis CA, Ellis NA, Boyd J, Borgen PI, Barakat RR, Norton L, Castiel M, Nafa K, Offit K, Kauff ND, Satagopan JM, Robson ME, Scheuer L, Hensley M, Hudis CA, Ellis NA, Boyd J, Borgen PI, Barakat RR, Norton L, Castiel M, Nafa K, Offit K: Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med. 2002, 346: 1609-1615. 10.1056/NEJMoa020119.CrossRefPubMed Kauff ND, Satagopan JM, Robson ME, Scheuer L, Hensley M, Hudis CA, Ellis NA, Boyd J, Borgen PI, Barakat RR, Norton L, Castiel M, Nafa K, Offit K, Kauff ND, Satagopan JM, Robson ME, Scheuer L, Hensley M, Hudis CA, Ellis NA, Boyd J, Borgen PI, Barakat RR, Norton L, Castiel M, Nafa K, Offit K: Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med. 2002, 346: 1609-1615. 10.1056/NEJMoa020119.CrossRefPubMed
29.
go back to reference Rebbeck TR, Lynch HT, Neuhausen SL, Narod SA, Van't Veer L, Garber JE, Evans G, Isaacs C, Daly MB, Matloff E, Olopade OI, Weber BL, For the Prevention and Observation of Surgical End Points Study Group: Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med. 2002, 346: 1616-1622. 10.1056/NEJMoa012158.CrossRefPubMed Rebbeck TR, Lynch HT, Neuhausen SL, Narod SA, Van't Veer L, Garber JE, Evans G, Isaacs C, Daly MB, Matloff E, Olopade OI, Weber BL, For the Prevention and Observation of Surgical End Points Study Group: Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med. 2002, 346: 1616-1622. 10.1056/NEJMoa012158.CrossRefPubMed
30.
go back to reference Rebbeck TR, Levin AM, Eisen A, Snyder C, Watson P, Cannon-Albright L: Breast cancer risk after prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst. 1999, 91: 1475-1479. 10.1093/jnci/91.17.1475.CrossRefPubMed Rebbeck TR, Levin AM, Eisen A, Snyder C, Watson P, Cannon-Albright L: Breast cancer risk after prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst. 1999, 91: 1475-1479. 10.1093/jnci/91.17.1475.CrossRefPubMed
31.
go back to reference Eisen A, Lubinski J, Klijn J, Moller P, Lynch HT, Offit K, Weber B, Rebbeck T, Neuhausen SL, Ghadirian P, Foulkes WD, Gershoni-Baruch R, Friedman E, Rennert G, Wagner T, Isaacs C, Kim-Sing C, Ainsworth P, Sun P, Narod SA: Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol. 2005, 23: 7491-7496. 10.1200/JCO.2004.00.7138.CrossRefPubMed Eisen A, Lubinski J, Klijn J, Moller P, Lynch HT, Offit K, Weber B, Rebbeck T, Neuhausen SL, Ghadirian P, Foulkes WD, Gershoni-Baruch R, Friedman E, Rennert G, Wagner T, Isaacs C, Kim-Sing C, Ainsworth P, Sun P, Narod SA: Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol. 2005, 23: 7491-7496. 10.1200/JCO.2004.00.7138.CrossRefPubMed
32.
go back to reference Howell A, Cuzick J, Baum M, Buzdar A, Dowsett M, Forbes JF, Hoctin-Boes G, Houghton J, Locker GY, Tobias JS, Group AT: Results of the ATAC (Arimidex, Tamoxifen, Alone or in Combination) trial after completion of 5 years' adjuvant treatment for breast cancer [see comment]. Lancet. 2005, 365: 60-62. 10.1016/S0140-6736(05)74803-0.CrossRefPubMed Howell A, Cuzick J, Baum M, Buzdar A, Dowsett M, Forbes JF, Hoctin-Boes G, Houghton J, Locker GY, Tobias JS, Group AT: Results of the ATAC (Arimidex, Tamoxifen, Alone or in Combination) trial after completion of 5 years' adjuvant treatment for breast cancer [see comment]. Lancet. 2005, 365: 60-62. 10.1016/S0140-6736(05)74803-0.CrossRefPubMed
33.
go back to reference The Breast International Group (BIG) 1–98 Collaborative Group: A comparison of letrozole and tamoxifen in postmenopausal women with early breast cancer. N Engl J Med. 2005, 353: 2747-2757. 10.1056/NEJMoa052258.CrossRef The Breast International Group (BIG) 1–98 Collaborative Group: A comparison of letrozole and tamoxifen in postmenopausal women with early breast cancer. N Engl J Med. 2005, 353: 2747-2757. 10.1056/NEJMoa052258.CrossRef
34.
go back to reference Quinn JE, James CR, Stewart GE, Mulligan JM, White P, Chang GK, Mullan PB, Johnston PG, Wilson RH, Harkin DP, Quinn JE: BRCA1 mRNA expression levels predict for overall survival in ovarian cancer after chemotherapy [see comment]. Clin Canc Res. 2007, 13: 7413-7420. 10.1158/1078-0432.CCR-07-1083.CrossRef Quinn JE, James CR, Stewart GE, Mulligan JM, White P, Chang GK, Mullan PB, Johnston PG, Wilson RH, Harkin DP, Quinn JE: BRCA1 mRNA expression levels predict for overall survival in ovarian cancer after chemotherapy [see comment]. Clin Canc Res. 2007, 13: 7413-7420. 10.1158/1078-0432.CCR-07-1083.CrossRef
35.
go back to reference Rottenberg S, Nygren AO, Pajic M, van Leeuwen FW, Heijden van der I, Wetering van de 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.0702955104.CrossRefPubMedPubMedCentral Rottenberg S, Nygren AO, Pajic M, van Leeuwen FW, Heijden van der I, Wetering van de 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.0702955104.CrossRefPubMedPubMedCentral
36.
go back to reference Moller P, Evans D, Reis M, Gregory H, Anderson E, Maehle L, F L, Howell A, J A, Clark N, Lucassen A, Steel C: Surveillance for familial breast cancer: Differences in outcome according to BRCA mutation status. Int J Cancer. 2007, 121: 1017-1020. 10.1002/ijc.22789.CrossRefPubMed Moller P, Evans D, Reis M, Gregory H, Anderson E, Maehle L, F L, Howell A, J A, Clark N, Lucassen A, Steel C: Surveillance for familial breast cancer: Differences in outcome according to BRCA mutation status. Int J Cancer. 2007, 121: 1017-1020. 10.1002/ijc.22789.CrossRefPubMed
37.
go back to reference Rakha E, El-Sheikh SE, Kandil MA, El-Sayed ME, Green AR, Ellis I: Expression of BRCA1 protein in breast cancer and its prognostic significance. Hum Pathol. 2008, 39: 857-865. 10.1016/j.humpath.2007.10.011.CrossRefPubMed Rakha E, El-Sheikh SE, Kandil MA, El-Sayed ME, Green AR, Ellis I: Expression of BRCA1 protein in breast cancer and its prognostic significance. Hum Pathol. 2008, 39: 857-865. 10.1016/j.humpath.2007.10.011.CrossRefPubMed
38.
go back to reference De Soto J, Deng C: PARP-inhibitors: Are they the long-sought genetically specific drugs for BRCA1/2 associated breast cancers?. Int J Med Sci. 2006, 3: 117-123.CrossRefPubMedPubMedCentral De Soto J, Deng C: PARP-inhibitors: Are they the long-sought genetically specific drugs for BRCA1/2 associated breast cancers?. Int J Med Sci. 2006, 3: 117-123.CrossRefPubMedPubMedCentral
39.
go back to reference Farmer H, McCabe N, Lord C, Tutt A, Johnson D, Richardson T, Santarosa M, Dillon K, Hickson I, Knights C, Martin N, Jackson S, Smith G, Ashworth A: Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature. 2005, 434: 917-920. 10.1038/nature03445.CrossRefPubMed Farmer H, McCabe N, Lord C, Tutt A, Johnson D, Richardson T, Santarosa M, Dillon K, Hickson I, Knights C, Martin N, Jackson S, Smith G, Ashworth A: Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature. 2005, 434: 917-920. 10.1038/nature03445.CrossRefPubMed
41.
go back to reference Fong P, Boss DS, Carden CP, Roelvink M, de Greve J, Gourley C, Carmichael J, de Bono JS, Schellens JH, Kaye SB: AZD2281 (KU-0059436), a PARP (poly ADP-ribose polymerase) inhibitor with single agent anticancer activity in patients with BRCA deficient ovarian cancer: Results from a phase I study [abstract]. J Clin Oncol. 2008, 26: 5510-10.1200/JCO.2008.17.8954.CrossRef Fong P, Boss DS, Carden CP, Roelvink M, de Greve J, Gourley C, Carmichael J, de Bono JS, Schellens JH, Kaye SB: AZD2281 (KU-0059436), a PARP (poly ADP-ribose polymerase) inhibitor with single agent anticancer activity in patients with BRCA deficient ovarian cancer: Results from a phase I study [abstract]. J Clin Oncol. 2008, 26: 5510-10.1200/JCO.2008.17.8954.CrossRef
42.
go back to reference Fackenthal J, Olopade O: Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer. 2007, 7: 937-948. 10.1038/nrc2054.CrossRefPubMed Fackenthal J, Olopade O: Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer. 2007, 7: 937-948. 10.1038/nrc2054.CrossRefPubMed
43.
go back to reference Loman N, Johannsson O, Kristoffersson U, Olsson H, Borg A: Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset cancer. J Nat Cancer Inst. 2001, 93: 1215-1223. 10.1093/jnci/93.16.1215.CrossRefPubMed Loman N, Johannsson O, Kristoffersson U, Olsson H, Borg A: Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset cancer. J Nat Cancer Inst. 2001, 93: 1215-1223. 10.1093/jnci/93.16.1215.CrossRefPubMed
44.
go back to reference Malone K, Daling J, Neal C, Suter N, O'Brien C, Cushing-Haugen K, Jonasdottir T, Thompson J, Ostra E: Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. Cancer. 2000, 88: 1393-1402. 10.1002/(SICI)1097-0142(20000315)88:6<1393::AID-CNCR17>3.0.CO;2-P.CrossRefPubMed Malone K, Daling J, Neal C, Suter N, O'Brien C, Cushing-Haugen K, Jonasdottir T, Thompson J, Ostra E: Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. Cancer. 2000, 88: 1393-1402. 10.1002/(SICI)1097-0142(20000315)88:6<1393::AID-CNCR17>3.0.CO;2-P.CrossRefPubMed
45.
go back to reference National Breast Cancer Centre: Current Best Advice About Familial Aspects of Breast/ovarian Cancer. 2000, Sydney: NHMRC National Breast Cancer Centre National Breast Cancer Centre: Current Best Advice About Familial Aspects of Breast/ovarian Cancer. 2000, Sydney: NHMRC National Breast Cancer Centre
46.
go back to reference McIntosh A, Shaw C, Evans G, Turnbull N, Bahar N, Barclay M, Easton D, Emery J, Gray J, Halpin J, Hopwood P, McKay J, Sheppard C, Sibbering M, Watson M, Wailoo A, Hutchinson A: Clinical Guidelines Evidence Review for The Classification Care of Women at Risk of Familial Breast Cancer. 2004, London: National Collaborating Centre for Primary Care, University of Sheffield McIntosh A, Shaw C, Evans G, Turnbull N, Bahar N, Barclay M, Easton D, Emery J, Gray J, Halpin J, Hopwood P, McKay J, Sheppard C, Sibbering M, Watson M, Wailoo A, Hutchinson A: Clinical Guidelines Evidence Review for The Classification Care of Women at Risk of Familial Breast Cancer. 2004, London: National Collaborating Centre for Primary Care, University of Sheffield
47.
go back to reference Lalloo F, Varley J, Ellis D, Moran A, O'Dair L, Pharaoh P, Evans D, the Early Onset Breast Cancer Group: Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. Lancet. 2003, 361: 1101-10.1016/S0140-6736(03)12856-5.CrossRefPubMed Lalloo F, Varley J, Ellis D, Moran A, O'Dair L, Pharaoh P, Evans D, the Early Onset Breast Cancer Group: Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. Lancet. 2003, 361: 1101-10.1016/S0140-6736(03)12856-5.CrossRefPubMed
48.
go back to reference Choi D, Lee M, Bale A, Carter D, Haffty B: Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients. J Clin Oncol. 2004, 22: 1638-1645. 10.1200/JCO.2004.04.179.CrossRefPubMed Choi D, Lee M, Bale A, Carter D, Haffty B: Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients. J Clin Oncol. 2004, 22: 1638-1645. 10.1200/JCO.2004.04.179.CrossRefPubMed
49.
go back to reference Moller P, Hagen A, Apold J, Maehle L, Clark N, Fiane B, Lovslett K, Hovig E, Vabo A: Genetic epidemiology of BRCA mutations – family history detects less than 50% of the mutation carriers. Eur J Cancer. 2007, 43: 1713-1717. 10.1016/j.ejca.2007.04.023.CrossRefPubMed Moller P, Hagen A, Apold J, Maehle L, Clark N, Fiane B, Lovslett K, Hovig E, Vabo A: Genetic epidemiology of BRCA mutations – family history detects less than 50% of the mutation carriers. Eur J Cancer. 2007, 43: 1713-1717. 10.1016/j.ejca.2007.04.023.CrossRefPubMed
50.
go back to reference Gerhardus A, Schleberger H, Schlegelberger B, Gadzicki D: Diagnostic accuracy of methods for the detection of BRCA1 and RBC2 mutations: A systematic review. Eur J Hum Genet. 2007, 15: 619-627. 10.1038/sj.ejhg.5201806.CrossRefPubMed Gerhardus A, Schleberger H, Schlegelberger B, Gadzicki D: Diagnostic accuracy of methods for the detection of BRCA1 and RBC2 mutations: A systematic review. Eur J Hum Genet. 2007, 15: 619-627. 10.1038/sj.ejhg.5201806.CrossRefPubMed
51.
go back to reference Hopper JL, Southey MC, Dite GS, Jolley DJ, Giles GG, McCredie MR, Easton DF, Venter DJ: Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study. Cancer Epidemiol Biomarkers Prev. 1999, 8: 741-747.PubMed Hopper JL, Southey MC, Dite GS, Jolley DJ, Giles GG, McCredie MR, Easton DF, Venter DJ: Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study. Cancer Epidemiol Biomarkers Prev. 1999, 8: 741-747.PubMed
52.
go back to reference Loizidou M, Marcou Y, Anastasiadou V, Newbold R, Hadjisavvas A, Kyriacou K: Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus. Clin Genet. 2007, 71: 165-170. 10.1111/j.1399-0004.2007.00747.x.CrossRefPubMed Loizidou M, Marcou Y, Anastasiadou V, Newbold R, Hadjisavvas A, Kyriacou K: Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus. Clin Genet. 2007, 71: 165-170. 10.1111/j.1399-0004.2007.00747.x.CrossRefPubMed
53.
go back to reference Martínez-Ferrandis J, Vega A, Chirivella I, Marín-García P, Insa A, Lluch A, Carracedo A, Chaves F, García-Conde J, Cervantes A, Armengod M: Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: Identification of three novel pathogenic mutations. Hum Mutat. 2003, 22: 417-418. 10.1002/humu.9188.CrossRefPubMed Martínez-Ferrandis J, Vega A, Chirivella I, Marín-García P, Insa A, Lluch A, Carracedo A, Chaves F, García-Conde J, Cervantes A, Armengod M: Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: Identification of three novel pathogenic mutations. Hum Mutat. 2003, 22: 417-418. 10.1002/humu.9188.CrossRefPubMed
54.
go back to reference Lakhani SR, Vijver Van De MJ, Jacquemier J, Anderson TJ, Osin PP, McGuffog L, Easton DF: The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2 [see comment]. J Clin Oncol. 2002, 20: 2310-2318. 10.1200/JCO.2002.09.023.CrossRefPubMed Lakhani SR, Vijver Van De MJ, Jacquemier J, Anderson TJ, Osin PP, McGuffog L, Easton DF: The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2 [see comment]. J Clin Oncol. 2002, 20: 2310-2318. 10.1200/JCO.2002.09.023.CrossRefPubMed
55.
go back to reference Atchley D, Albarracin C, Lopez A, Valero V, Amos C, Gonzalez-Angulo A, Hortobagyi G, Arun B: Clinical and pathological characteristics of patients with BRCA-positive and BRCA-negative breast cancer. J Clin Oncol. 2008, 26: 4282-4288. 10.1200/JCO.2008.16.6231.CrossRefPubMed Atchley D, Albarracin C, Lopez A, Valero V, Amos C, Gonzalez-Angulo A, Hortobagyi G, Arun B: Clinical and pathological characteristics of patients with BRCA-positive and BRCA-negative breast cancer. J Clin Oncol. 2008, 26: 4282-4288. 10.1200/JCO.2008.16.6231.CrossRefPubMed
56.
go back to reference Abeliovich D, Kaduri L, Lerer I, Weinberg N, Amir G, Sagi M, Zlotogora J, Heching N, Peretz T: The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet. 1997, 60: 505-514.PubMedPubMedCentral Abeliovich D, Kaduri L, Lerer I, Weinberg N, Amir G, Sagi M, Zlotogora J, Heching N, Peretz T: The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet. 1997, 60: 505-514.PubMedPubMedCentral
58.
go back to reference Stolier AJ, Fuhrman GM, Mauterer L, Bolton JS, Superneau DW: Initial experience with surgical treatment planning in the newly diagnosed breast cancer patient at high risk for BRCA-1 or BRCA-2 mutation [see comment]. Breast J. 2004, 10: 475-480. 10.1111/j.1075-122X.2004.21543.x.CrossRefPubMed Stolier AJ, Fuhrman GM, Mauterer L, Bolton JS, Superneau DW: Initial experience with surgical treatment planning in the newly diagnosed breast cancer patient at high risk for BRCA-1 or BRCA-2 mutation [see comment]. Breast J. 2004, 10: 475-480. 10.1111/j.1075-122X.2004.21543.x.CrossRefPubMed
59.
go back to reference Warlam-Rodenhuis CC, Koot VC, Luijt van der RB, Vasen HF, Ausems MG: A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients. Eur J Cancer. 2005, 41: 1409-1415. 10.1016/j.ejca.2005.02.030.CrossRefPubMed Warlam-Rodenhuis CC, Koot VC, Luijt van der RB, Vasen HF, Ausems MG: A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients. Eur J Cancer. 2005, 41: 1409-1415. 10.1016/j.ejca.2005.02.030.CrossRefPubMed
60.
go back to reference Schlich-Bakker KJ, Warlam-Rodenhuis CC, van Echtelt J, Bout van den J, Ausems MG, ten Kroode HF: Short term psychological distress in patients actively approached for genetic counselling after diagnosis of breast cancer. Eur J Cancer. 2006, 42: 2722-2728. 10.1016/j.ejca.2006.05.032.CrossRefPubMed Schlich-Bakker KJ, Warlam-Rodenhuis CC, van Echtelt J, Bout van den J, Ausems MG, ten Kroode HF: Short term psychological distress in patients actively approached for genetic counselling after diagnosis of breast cancer. Eur J Cancer. 2006, 42: 2722-2728. 10.1016/j.ejca.2006.05.032.CrossRefPubMed
61.
go back to reference Meiser B: Psychological impact of genetic testing for cancer susceptibility: An update of the literature. Psychooncology. 2005, 14: 1060-1074. 10.1002/pon.933.CrossRefPubMed Meiser B: Psychological impact of genetic testing for cancer susceptibility: An update of the literature. Psychooncology. 2005, 14: 1060-1074. 10.1002/pon.933.CrossRefPubMed
62.
go back to reference Reichelt JG, Heimdal K, Moller P, Dahl AA: BRCA1 testing with definitive results: A prospective study of psychological distress in a large clinic-based sample. Fam Cancer. 2004, 3: 21-28. 10.1023/B:FAME.0000026820.32469.4a.CrossRefPubMed Reichelt JG, Heimdal K, Moller P, Dahl AA: BRCA1 testing with definitive results: A prospective study of psychological distress in a large clinic-based sample. Fam Cancer. 2004, 3: 21-28. 10.1023/B:FAME.0000026820.32469.4a.CrossRefPubMed
63.
go back to reference Loader S, Shields CG, Rowley PT: Impact of genetic testing for breast-ovarian cancer susceptibility. Genet Test. 2004, 8: 1-12. 10.1089/109065704323015987.CrossRefPubMed Loader S, Shields CG, Rowley PT: Impact of genetic testing for breast-ovarian cancer susceptibility. Genet Test. 2004, 8: 1-12. 10.1089/109065704323015987.CrossRefPubMed
64.
go back to reference van Roosmalen MS, Stalmeier PF, Verhoef LC, Hoekstra-Weebers JE, Oosterwijk JC, Hoogerbrugge N, Moog U, van Daal WA: Impact of BRCA1/2 testing and disclosure of a positive test result on women affected and unaffected with breast or ovarian cancer. Am J Med Genet A. 2004, 124: 346-355. 10.1002/ajmg.a.20374.CrossRef van Roosmalen MS, Stalmeier PF, Verhoef LC, Hoekstra-Weebers JE, Oosterwijk JC, Hoogerbrugge N, Moog U, van Daal WA: Impact of BRCA1/2 testing and disclosure of a positive test result on women affected and unaffected with breast or ovarian cancer. Am J Med Genet A. 2004, 124: 346-355. 10.1002/ajmg.a.20374.CrossRef
65.
go back to reference Bonadona V, Saltel P, Desseigne F, Mignotte H, Saurin JC, Wang Q, Sinilnikova O, Giraud S, Freyer G, Plauchu H, Puisieux A, Lasset C, Bonadona V, Saltel P, Desseigne F, Mignotte H, Saurin J-C, Wang Q, Sinilnikova O, Giraud S, Freyer G, Plauchu H, Puisieux A, Lasset C: Cancer patients who experienced diagnostic genetic testing for cancer susceptibility: reactions and behavior after the disclosure of a positive test result. Cancer Epidemiol Biomarkers Prev. 2002, 11: 97-104.PubMed Bonadona V, Saltel P, Desseigne F, Mignotte H, Saurin JC, Wang Q, Sinilnikova O, Giraud S, Freyer G, Plauchu H, Puisieux A, Lasset C, Bonadona V, Saltel P, Desseigne F, Mignotte H, Saurin J-C, Wang Q, Sinilnikova O, Giraud S, Freyer G, Plauchu H, Puisieux A, Lasset C: Cancer patients who experienced diagnostic genetic testing for cancer susceptibility: reactions and behavior after the disclosure of a positive test result. Cancer Epidemiol Biomarkers Prev. 2002, 11: 97-104.PubMed
66.
go back to reference Graves K, Peshkin B, Halbert C, DeMarco T, Isaacs C, Schwartz M: Predictors and outcomes of contralateral prophylactic mastectomy among breast cancer survivors. Breast Cancer Res Tr. 2007, 104: 321-329. 10.1007/s10549-006-9423-5.CrossRef Graves K, Peshkin B, Halbert C, DeMarco T, Isaacs C, Schwartz M: Predictors and outcomes of contralateral prophylactic mastectomy among breast cancer survivors. Breast Cancer Res Tr. 2007, 104: 321-329. 10.1007/s10549-006-9423-5.CrossRef
67.
go back to reference Tercyak KP, Peshkin BN, Brogan BM, DeMarco T, Pennanen MF, Willey SC, Magnant CM, Rogers S, Isaacs C, Schwartz MD: Quality of life after contralateral prophylactic mastectomy in newly diagnosed high-risk breast cancer patients who underwent BRCA1/2 gene testing. J Clin Oncol. 2007, 25: 285-291. 10.1200/JCO.2006.07.3890.CrossRefPubMed Tercyak KP, Peshkin BN, Brogan BM, DeMarco T, Pennanen MF, Willey SC, Magnant CM, Rogers S, Isaacs C, Schwartz MD: Quality of life after contralateral prophylactic mastectomy in newly diagnosed high-risk breast cancer patients who underwent BRCA1/2 gene testing. J Clin Oncol. 2007, 25: 285-291. 10.1200/JCO.2006.07.3890.CrossRefPubMed
68.
go back to reference Metcalfe KA, Lubinski J, Ghadirian P, Lynch H, Kim-Sing C, Friedman E, Foulkes WD, Domchek S, Ainsworth P, Isaacs C, Tung N, Gronwald J, Cummings S, Wagner T, Manoukian S, Moller P, Weitzel J, Sun P, Narod SA, Hereditary Breast Cancer Clinical Study G: Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group. J Clin Oncol. 2008, 26: 1093-1097. 10.1200/JCO.2007.12.6078.CrossRefPubMed Metcalfe KA, Lubinski J, Ghadirian P, Lynch H, Kim-Sing C, Friedman E, Foulkes WD, Domchek S, Ainsworth P, Isaacs C, Tung N, Gronwald J, Cummings S, Wagner T, Manoukian S, Moller P, Weitzel J, Sun P, Narod SA, Hereditary Breast Cancer Clinical Study G: Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group. J Clin Oncol. 2008, 26: 1093-1097. 10.1200/JCO.2007.12.6078.CrossRefPubMed
69.
go back to reference Daly MB: Tailoring breast cancer treatment to genetic status: the challenges ahead [comment]. J Clin Oncol. 2004, 22: 1776-1777. 10.1200/JCO.2004.02.994.CrossRefPubMed Daly MB: Tailoring breast cancer treatment to genetic status: the challenges ahead [comment]. J Clin Oncol. 2004, 22: 1776-1777. 10.1200/JCO.2004.02.994.CrossRefPubMed
70.
go back to reference Schlich-Bakker K, Ausems ME, Schipper M, Ten Kroode H, Warlam-Rodenhuis C, van Den Bout J: BRCA1/2 mutation testing in breast cancer patients: a prospective study of the long-term psychological impact of approach during adjuvant radiotherapy. Breast Cancer Res Treat. 2008, 109: 507-514. 10.1007/s10549-007-9680-y.CrossRefPubMed Schlich-Bakker K, Ausems ME, Schipper M, Ten Kroode H, Warlam-Rodenhuis C, van Den Bout J: BRCA1/2 mutation testing in breast cancer patients: a prospective study of the long-term psychological impact of approach during adjuvant radiotherapy. Breast Cancer Res Treat. 2008, 109: 507-514. 10.1007/s10549-007-9680-y.CrossRefPubMed
71.
go back to reference Schlich-Bakker K, Ten Kroode H, Warlam-Rodenhuis C, van Den Bout J, Ausems M: Barriers to participating in genetic counselling and BRCA testing during primary treatment for breast cancer. Genet Med. 2007, 11: 766-777.CrossRef Schlich-Bakker K, Ten Kroode H, Warlam-Rodenhuis C, van Den Bout J, Ausems M: Barriers to participating in genetic counselling and BRCA testing during primary treatment for breast cancer. Genet Med. 2007, 11: 766-777.CrossRef
72.
go back to reference Ardern-Jones A, Kenen R, Eeles R: Too much too soon? Patients' and health professionals' views concerning the impact of genetic testing at the time of breast cancer diagnosis in women under the age of 40. Eur J Cancer Care (Engl.). 2005, 14: 272-281. 10.1111/j.1365-2354.2005.00574.x.CrossRef Ardern-Jones A, Kenen R, Eeles R: Too much too soon? Patients' and health professionals' views concerning the impact of genetic testing at the time of breast cancer diagnosis in women under the age of 40. Eur J Cancer Care (Engl.). 2005, 14: 272-281. 10.1111/j.1365-2354.2005.00574.x.CrossRef
73.
go back to reference Lobb E, Hallowell N, Barlow-Stewart K, Suthers G: Determining the genetic status of women newly diagnosed with breast cancer prior to treatment decision: An ethical challenge. Eur J Hum Genet. 2008, 16 (Suppl 2): 437- Lobb E, Hallowell N, Barlow-Stewart K, Suthers G: Determining the genetic status of women newly diagnosed with breast cancer prior to treatment decision: An ethical challenge. Eur J Hum Genet. 2008, 16 (Suppl 2): 437-
74.
go back to reference O'Connor A, Stacey D, Rovner D, Holmes-Rovner M, Tetroe J, Llewellyn-Thomas H, Entwistle V, Rostom A, Fiset V, Barry M, Jones J: Decision aids for people facing health treatment or screening decisions. Cochrane Database Syst Rev. 2001, CD001431- O'Connor A, Stacey D, Rovner D, Holmes-Rovner M, Tetroe J, Llewellyn-Thomas H, Entwistle V, Rostom A, Fiset V, Barry M, Jones J: Decision aids for people facing health treatment or screening decisions. Cochrane Database Syst Rev. 2001, CD001431-
75.
go back to reference Lobb EA, Butow PN, Moore A, Barratt A, Tucker K, Gaff C, Kirk J, Dudding T, Butt D: Development of a communication aid to facilitate risk communication in consultations with unaffected women from high risk breast cancer families: a pilot study. J Genet Couns. 2006, 15: 393-405. 10.1007/s10897-006-9023-x.CrossRefPubMed Lobb EA, Butow PN, Moore A, Barratt A, Tucker K, Gaff C, Kirk J, Dudding T, Butt D: Development of a communication aid to facilitate risk communication in consultations with unaffected women from high risk breast cancer families: a pilot study. J Genet Couns. 2006, 15: 393-405. 10.1007/s10897-006-9023-x.CrossRefPubMed
76.
go back to reference Wakefield C, Meiser B, Homewood J, Taylor A, Gleeson M, Williams R, Tucker K, the AGenDA Collaborative Group: A randomized trial of a breast/ovarian cancer genetic testing decision aid used as a communication aid during genetic counseling. Psychooncology. 2008, 17: 844-854. 10.1002/pon.1353.CrossRefPubMed Wakefield C, Meiser B, Homewood J, Taylor A, Gleeson M, Williams R, Tucker K, the AGenDA Collaborative Group: A randomized trial of a breast/ovarian cancer genetic testing decision aid used as a communication aid during genetic counseling. Psychooncology. 2008, 17: 844-854. 10.1002/pon.1353.CrossRefPubMed
77.
go back to reference Wakefield C, Meiser B, Homewood J, Peate M, Taylor A, Lobb E, Kirk J, Young M, Williams R, Dudding T, Tucker K, the AGenDA Collaborative Group: A randomized controlled trial of a decision aid for women considering genetic testing for breast and ovarian cancer risk. Breast Cancer Res Treat. 2008, 107: 289-301. 10.1007/s10549-007-9539-2.CrossRefPubMed Wakefield C, Meiser B, Homewood J, Peate M, Taylor A, Lobb E, Kirk J, Young M, Williams R, Dudding T, Tucker K, the AGenDA Collaborative Group: A randomized controlled trial of a decision aid for women considering genetic testing for breast and ovarian cancer risk. Breast Cancer Res Treat. 2008, 107: 289-301. 10.1007/s10549-007-9539-2.CrossRefPubMed
78.
go back to reference Uhrhammer N, Abdelouahab A, Lafarge L, Feillel V, Dib A, Bignon Y: BRCA1 mutations in Algerian breast cancer patients: High frequency in young, sporadic cases. Int J Med Sci. 2008, 5: 197-202.CrossRefPubMedPubMedCentral Uhrhammer N, Abdelouahab A, Lafarge L, Feillel V, Dib A, Bignon Y: BRCA1 mutations in Algerian breast cancer patients: High frequency in young, sporadic cases. Int J Med Sci. 2008, 5: 197-202.CrossRefPubMedPubMedCentral
79.
go back to reference Haffty B, Silber A, Matloff E, Chung J, Lannin D: Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women. J Med Genet. 2006, 43: 133-137. 10.1136/jmg.2005.034744.CrossRefPubMed Haffty B, Silber A, Matloff E, Chung J, Lannin D: Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women. J Med Genet. 2006, 43: 133-137. 10.1136/jmg.2005.034744.CrossRefPubMed
80.
go back to reference Hamann U, Liu X, Bungardt N, Ulmer HU, Bastert G, Sinn H-P: Similar contributions of BRCA1 and BRCA2 germline mutations to early-onset breast cancer in Germany. Eur J Hum Genet. 2003, 11: 464-467. 10.1038/sj.ejhg.5200988.CrossRefPubMed Hamann U, Liu X, Bungardt N, Ulmer HU, Bastert G, Sinn H-P: Similar contributions of BRCA1 and BRCA2 germline mutations to early-onset breast cancer in Germany. Eur J Hum Genet. 2003, 11: 464-467. 10.1038/sj.ejhg.5200988.CrossRefPubMed
81.
go back to reference Bonadona V, Sinilnikova OM, Chopin S, Antoniou AC, Mignotte H, Mathevet P, Brémond A, Martin A, Bobin JY, Romestaing P, Raudrant D, Rudigoz RC, Léoné M, Chauvin F, Easton DF, Lenoir GM, Lasset C: Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: Results from a prospective population-based study in France. Genes Chromosomes Cancer. 2005, 43: 404-413. 10.1002/gcc.20199.CrossRefPubMed Bonadona V, Sinilnikova OM, Chopin S, Antoniou AC, Mignotte H, Mathevet P, Brémond A, Martin A, Bobin JY, Romestaing P, Raudrant D, Rudigoz RC, Léoné M, Chauvin F, Easton DF, Lenoir GM, Lasset C: Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: Results from a prospective population-based study in France. Genes Chromosomes Cancer. 2005, 43: 404-413. 10.1002/gcc.20199.CrossRefPubMed
82.
go back to reference de Sanjose S, Leone M, Berez V, Izquierdo A, Font R, Brunet J, Louat T, Vilardell L, Borras J, Viladiu P, Bosch F, Lenoir G, Sinilnikova O: Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study. Int J Cancer. 2003, 106: 588-593. 10.1002/ijc.11271.CrossRefPubMed de Sanjose S, Leone M, Berez V, Izquierdo A, Font R, Brunet J, Louat T, Vilardell L, Borras J, Viladiu P, Bosch F, Lenoir G, Sinilnikova O: Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study. Int J Cancer. 2003, 106: 588-593. 10.1002/ijc.11271.CrossRefPubMed
83.
go back to reference Malone KE, Daling JR, Thompson JD, O'Brien CA, Francisco LV, Ostrander EA: BRCA1 mutations and breast cancer in the general population: Analyses in women before age 35 years and in women before age 45 years with first-degree family history [see comment]. JAMA. 1998, 279: 922-929. 10.1001/jama.279.12.922.CrossRefPubMed Malone KE, Daling JR, Thompson JD, O'Brien CA, Francisco LV, Ostrander EA: BRCA1 mutations and breast cancer in the general population: Analyses in women before age 35 years and in women before age 45 years with first-degree family history [see comment]. JAMA. 1998, 279: 922-929. 10.1001/jama.279.12.922.CrossRefPubMed
84.
go back to reference Plaschke J, Commer T, Jacobi C, Schackert HK, Chang-Claude J: BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease. J Med Genet. 2000, 37: E17-10.1136/jmg.37.9.e17.CrossRefPubMedPubMedCentral Plaschke J, Commer T, Jacobi C, Schackert HK, Chang-Claude J: BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease. J Med Genet. 2000, 37: E17-10.1136/jmg.37.9.e17.CrossRefPubMedPubMedCentral
85.
go back to reference Ho GH, Phang BH, Ng IS, Law HY, Soo KC, Ng EH: Novel germline BRCA1 mutations detected in women in singapore who developed breast carcinoma before the age of 36 years. Cancer. 2000, 89: 811-816. 10.1002/1097-0142(20000815)89:4<811::AID-CNCR13>3.0.CO;2-R.CrossRefPubMed Ho GH, Phang BH, Ng IS, Law HY, Soo KC, Ng EH: Novel germline BRCA1 mutations detected in women in singapore who developed breast carcinoma before the age of 36 years. Cancer. 2000, 89: 811-816. 10.1002/1097-0142(20000815)89:4<811::AID-CNCR13>3.0.CO;2-R.CrossRefPubMed
86.
go back to reference Yassaee V, Zeinali S, Harirchi I, Jarvandi J, Mohagheghi M, Hornby D, Dalton A: Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer. Breast Cancer Res. 2002, 4: R6-10.1186/bcr443.CrossRefPubMedPubMedCentral Yassaee V, Zeinali S, Harirchi I, Jarvandi J, Mohagheghi M, Hornby D, Dalton A: Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer. Breast Cancer Res. 2002, 4: R6-10.1186/bcr443.CrossRefPubMedPubMedCentral
87.
go back to reference Anglican Breast Cancer Study Group: Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglican Breast Cancer Study Group. Br J Cancer. 2000, 83: 1301-1308. 10.1054/bjoc.2000.1407.CrossRef Anglican Breast Cancer Study Group: Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglican Breast Cancer Study Group. Br J Cancer. 2000, 83: 1301-1308. 10.1054/bjoc.2000.1407.CrossRef
88.
go back to reference Southey M, Tesoriero A, Andersen C, Jennings K, Brown S, Dite G, Jenkins M, Osborne R, Maskiell J, Porter L, Giles G, McCredie M, Hopper J, Vent D: BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer. Br J Cancer. 1999, 79: 34-39. 10.1038/sj.bjc.6690008.CrossRefPubMedPubMedCentral Southey M, Tesoriero A, Andersen C, Jennings K, Brown S, Dite G, Jenkins M, Osborne R, Maskiell J, Porter L, Giles G, McCredie M, Hopper J, Vent D: BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer. Br J Cancer. 1999, 79: 34-39. 10.1038/sj.bjc.6690008.CrossRefPubMedPubMedCentral
89.
go back to reference Krainer M, Silva-Arrieta S, FitzGerald MG, Shimada A, Ishioka C, Kanamaru R, MacDonald DJ, Unsal H, Finkelstein DM, Bowcock A, Isselbacher KJ, Haber DA: Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer [see comment]. N Engl J Med. 1997, 336: 1416-1421. 10.1056/NEJM199705153362003.CrossRefPubMed Krainer M, Silva-Arrieta S, FitzGerald MG, Shimada A, Ishioka C, Kanamaru R, MacDonald DJ, Unsal H, Finkelstein DM, Bowcock A, Isselbacher KJ, Haber DA: Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer [see comment]. N Engl J Med. 1997, 336: 1416-1421. 10.1056/NEJM199705153362003.CrossRefPubMed
90.
go back to reference Peto J, Collins N, Barfoot R, Seal S, Warren W, Rahman N, Easton DF, Evans C, Deacon J, Stratton MR: Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer [see comment]. J Natl Cancer I. 1999, 91: 904-905. 10.1093/jnci/91.11.943.CrossRef Peto J, Collins N, Barfoot R, Seal S, Warren W, Rahman N, Easton DF, Evans C, Deacon J, Stratton MR: Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer [see comment]. J Natl Cancer I. 1999, 91: 904-905. 10.1093/jnci/91.11.943.CrossRef
91.
go back to reference Lubinski J, Gorski B, Huzarski T, Byrski T, Gronwald J, J S-Fn, Domagala W, Chosia M, Ucinski M, Grzybowska E, Lange D, Maka B, Mackiewicz A, Karczewska A, Breborowicz J, Lamperska K, Stawicka M, Gozdecka-Grodecka S, Bebenek M, Sorokin D, Wojnar A, Haus O, Sir J, Mierzwa T, Niepsuj S, Gugala K, Gozdz S, Sygut J, Kozak-Klonowska B, Musiatowicz B, et al: BRCA1-positive breast cancers in young women from Poland. Breast Cancer Res Treat. 2006, 99: 71-76. 10.1007/s10549-006-9182-3.CrossRefPubMed Lubinski J, Gorski B, Huzarski T, Byrski T, Gronwald J, J S-Fn, Domagala W, Chosia M, Ucinski M, Grzybowska E, Lange D, Maka B, Mackiewicz A, Karczewska A, Breborowicz J, Lamperska K, Stawicka M, Gozdecka-Grodecka S, Bebenek M, Sorokin D, Wojnar A, Haus O, Sir J, Mierzwa T, Niepsuj S, Gugala K, Gozdz S, Sygut J, Kozak-Klonowska B, Musiatowicz B, et al: BRCA1-positive breast cancers in young women from Poland. Breast Cancer Res Treat. 2006, 99: 71-76. 10.1007/s10549-006-9182-3.CrossRefPubMed
92.
go back to reference Robson M, Gilewski T, Haas B, Levin D, Borgen P, Rajan R, Hirschaut Y, Pressman P, Rosen P, Lesser M, Norton L, Offit K: BRCA-associated breast cancer in young women. J Clin Oncol. 1998, 16: 1642-1649.PubMed Robson M, Gilewski T, Haas B, Levin D, Borgen P, Rajan R, Hirschaut Y, Pressman P, Rosen P, Lesser M, Norton L, Offit K: BRCA-associated breast cancer in young women. J Clin Oncol. 1998, 16: 1642-1649.PubMed
93.
go back to reference Gershoni-Baruch R, Dagan E, Fried G, Bruchim Bar-Sade R, Sverdlov-Shiri R, Zelicksson G, Friedman E: Significantly lower rates of BRCA1/BRCA2 founder mutations in Ashkenazi women with sporadic compared with familial early onset breast cancer. Eur J Cancer. 2000, 36: 983-986. 10.1016/S0959-8049(00)00045-9.CrossRefPubMed Gershoni-Baruch R, Dagan E, Fried G, Bruchim Bar-Sade R, Sverdlov-Shiri R, Zelicksson G, Friedman E: Significantly lower rates of BRCA1/BRCA2 founder mutations in Ashkenazi women with sporadic compared with familial early onset breast cancer. Eur J Cancer. 2000, 36: 983-986. 10.1016/S0959-8049(00)00045-9.CrossRefPubMed
94.
go back to reference Tonin P, Perret C, Lambert J, Paradis A, Kantemiroff T, Benoît M, Martin G, Foulkes W, Ghadirian P: Founder BRCA1 and BRCA2 mutations in early-onset French Canadian breast cancer cases unselected for family history. Int J Cancer. 2001, 20: 189-193. 10.1002/1097-0215(20010520)95:3<189::AID-IJC1032>3.0.CO;2-N.CrossRef Tonin P, Perret C, Lambert J, Paradis A, Kantemiroff T, Benoît M, Martin G, Foulkes W, Ghadirian P: Founder BRCA1 and BRCA2 mutations in early-onset French Canadian breast cancer cases unselected for family history. Int J Cancer. 2001, 20: 189-193. 10.1002/1097-0215(20010520)95:3<189::AID-IJC1032>3.0.CO;2-N.CrossRef
95.
go back to reference Lalloo F, Varley J, Moran A, Ellis D, O'Dair L, Pharaoh P, Antoniou A, Hartley R, Shenton A, Seal S, Bulman B, Howell A, Evans D: BRCA1, BRCA2 and T53 mutations in very early-onset breast cancer with asociated risks for relatives. Eur J Cancer. 2006, 42: 1143-1150. 10.1016/j.ejca.2005.11.032.CrossRefPubMed Lalloo F, Varley J, Moran A, Ellis D, O'Dair L, Pharaoh P, Antoniou A, Hartley R, Shenton A, Seal S, Bulman B, Howell A, Evans D: BRCA1, BRCA2 and T53 mutations in very early-onset breast cancer with asociated risks for relatives. Eur J Cancer. 2006, 42: 1143-1150. 10.1016/j.ejca.2005.11.032.CrossRefPubMed
96.
go back to reference National Breast Cancer Centre: Advice About Familial Aspects of Breast Cancer and Epithelial Ovarian Cancer: A Guide for Health Professionals. 2006, Sydney: NHMRC National Breast Cancer Centre National Breast Cancer Centre: Advice About Familial Aspects of Breast Cancer and Epithelial Ovarian Cancer: A Guide for Health Professionals. 2006, Sydney: NHMRC National Breast Cancer Centre
Metadata
Title
Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda
Authors
Bettina Meiser
Kathy Tucker
Michael Friedlander
Kristine Barlow-Stewart
Elizabeth Lobb
Christobel Saunders
Gillian Mitchell
Publication date
01-12-2008
Publisher
BioMed Central
Published in
Breast Cancer Research / Issue 6/2008
Electronic ISSN: 1465-542X
DOI
https://doi.org/10.1186/bcr2194

Other articles of this Issue 6/2008

Breast Cancer Research 6/2008 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