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Published in: Breast Cancer Research 6/2003

01-12-2003 | Review

The diagnosis and management of pre-invasive breast disease Genetic alterations in pre-invasive lesions

Authors: Jorge S Reis-Filho, Sunil R Lakhani

Published in: Breast Cancer Research | Issue 6/2003

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Abstract

The development of modern molecular genetic techniques has allowed breast cancer researchers to clarify the multistep model of breast carcinogenesis. Laser capture microdissection coupled with comparative genomic hybridisation and/or loss-of-heterozygosity methods have confirmed that many pre-invasive lesions of the breast harbour chromosomal abnormalities at loci known to be altered in invasive breast carcinomas. Current data do not provide strong evidence for ductal hyperplasia of usual type as a precursor lesion, although some are monoclonal proliferations; however, atypical hyperplasia and in situ carcinoma appear to be nonobligate precursors. We review current knowledge and the contribution of molecular genetics in the understanding of breast cancer precursors and pre-invasive lesions.
Literature
1.
go back to reference Murphy DS, Hoare SF, Going JJ, Mallon EE, George WD, Kaye SB, Brown R, Black DM, Keith WN: Characterisation of extensive genetic alterations in ductal carcinoma in situ by fluorescence in situ hybridization and molecular analysis. J Natl Cancer Inst. 1995, 87: 1694-1704.CrossRefPubMed Murphy DS, Hoare SF, Going JJ, Mallon EE, George WD, Kaye SB, Brown R, Black DM, Keith WN: Characterisation of extensive genetic alterations in ductal carcinoma in situ by fluorescence in situ hybridization and molecular analysis. J Natl Cancer Inst. 1995, 87: 1694-1704.CrossRefPubMed
2.
go back to reference Isola J, DeVries S, Chu L, Ghazvini S, Waldman F: Analysis of changes in DNA sequence copy numbers by coparative genomic hybridization in archival paraffin-embedded tumour samples. Am J Pathol. 1994, 145: 1301-1308.PubMedPubMedCentral Isola J, DeVries S, Chu L, Ghazvini S, Waldman F: Analysis of changes in DNA sequence copy numbers by coparative genomic hybridization in archival paraffin-embedded tumour samples. Am J Pathol. 1994, 145: 1301-1308.PubMedPubMedCentral
3.
go back to reference Kuukasjarvi T, Tanner M, Pennanen S, Karhu R, Kallioniemi OP, Isola J: Genetic changes in intraductal breast cancer detected by comparative genomic hybridization. Am J Pathol. 1997, 150: 1465-1471.PubMedPubMedCentral Kuukasjarvi T, Tanner M, Pennanen S, Karhu R, Kallioniemi OP, Isola J: Genetic changes in intraductal breast cancer detected by comparative genomic hybridization. Am J Pathol. 1997, 150: 1465-1471.PubMedPubMedCentral
4.
go back to reference Buerger H, Otterbach F, Simon R, Schafer KL, Poremba C, Diallo R, Brinkschmidt C, Dockhorn-Dworniczak B, Boecker W: Different genetic pathways in the evolution of invasive breast cancer are associated with distinct morphological subtypes. J Pathol. 1999, 189: 521-526. 10.1002/(SICI)1096-9896(199912)189:4<521::AID-PATH472>3.0.CO;2-B.CrossRefPubMed Buerger H, Otterbach F, Simon R, Schafer KL, Poremba C, Diallo R, Brinkschmidt C, Dockhorn-Dworniczak B, Boecker W: Different genetic pathways in the evolution of invasive breast cancer are associated with distinct morphological subtypes. J Pathol. 1999, 189: 521-526. 10.1002/(SICI)1096-9896(199912)189:4<521::AID-PATH472>3.0.CO;2-B.CrossRefPubMed
5.
go back to reference Waldman FM, DeVries S, Chew KL, Moore DH, Kerlikowske K, Ljung BM: Chromosomal alterations in ductal carcinomas in situ and their in situ recurrences. J Natl Cancer Inst. 2000, 92: 313-320. 10.1093/jnci/92.4.313.CrossRefPubMed Waldman FM, DeVries S, Chew KL, Moore DH, Kerlikowske K, Ljung BM: Chromosomal alterations in ductal carcinomas in situ and their in situ recurrences. J Natl Cancer Inst. 2000, 92: 313-320. 10.1093/jnci/92.4.313.CrossRefPubMed
6.
go back to reference Boecker W, Buerger H, Schmitz K, Ellis IA, van Diest PJ, Sinn HP, Geradts J, Diallo R, Poremba C, Herbst H: Ductal epithelial proliferations of the breast: a biological continuum? Comparative genomic hybridization and high-molecular-weight cytokeratin expression patterns. J Pathol. 2001, 195: 415-421. 10.1002/path.982.CrossRefPubMed Boecker W, Buerger H, Schmitz K, Ellis IA, van Diest PJ, Sinn HP, Geradts J, Diallo R, Poremba C, Herbst H: Ductal epithelial proliferations of the breast: a biological continuum? Comparative genomic hybridization and high-molecular-weight cytokeratin expression patterns. J Pathol. 2001, 195: 415-421. 10.1002/path.982.CrossRefPubMed
7.
go back to reference Aubele M, Mattis A, Zitzelsberger H, Walch A, Kremer M, Welzl G, Hofler H, Werner M: Extensive ductal carcinoma In situ with small foci of invasive ductal carcinoma: evidence of genetic resemblance by CGH. Int J Cancer. 2000, 85: 82-86. 10.1002/(SICI)1097-0215(20000101)85:1<82::AID-IJC15>3.3.CO;2-J.CrossRefPubMed Aubele M, Mattis A, Zitzelsberger H, Walch A, Kremer M, Welzl G, Hofler H, Werner M: Extensive ductal carcinoma In situ with small foci of invasive ductal carcinoma: evidence of genetic resemblance by CGH. Int J Cancer. 2000, 85: 82-86. 10.1002/(SICI)1097-0215(20000101)85:1<82::AID-IJC15>3.3.CO;2-J.CrossRefPubMed
8.
go back to reference Buerger H, Schmidt H, Beckmann A, Zanker KS, Boecker W, Brandt B: Genetic characterisation of invasive breast cancer: a comparison of CGH and PCR based multiplex microsatellite analysis. J Clin Pathol. 2001, 54: 836-840.CrossRefPubMedPubMedCentral Buerger H, Schmidt H, Beckmann A, Zanker KS, Boecker W, Brandt B: Genetic characterisation of invasive breast cancer: a comparison of CGH and PCR based multiplex microsatellite analysis. J Clin Pathol. 2001, 54: 836-840.CrossRefPubMedPubMedCentral
9.
go back to reference Vos CB, ter Haar NT, Rosenberg C, Peterse JL, Cleton-Jansen AM, Cornelisse CJ, van de Vijver MJ: Genetic alterations on chromosome 16 and 17 are important features of ductal carcinoma in situ of the breast and are associated with histologic type. Br J Cancer. 1999, 81: 1410-1418. 10.1038/sj.bjc.6693372.CrossRefPubMedPubMedCentral Vos CB, ter Haar NT, Rosenberg C, Peterse JL, Cleton-Jansen AM, Cornelisse CJ, van de Vijver MJ: Genetic alterations on chromosome 16 and 17 are important features of ductal carcinoma in situ of the breast and are associated with histologic type. Br J Cancer. 1999, 81: 1410-1418. 10.1038/sj.bjc.6693372.CrossRefPubMedPubMedCentral
10.
go back to reference Roylance R, Gorman P, Hanby A, Tomlinson I: Allelic imbalance analysis of chromosome 16q shows that grade I and grade III invasive ductal breast cancers follow different genetic pathways. J Pathol. 2002, 196: 32-36. 10.1002/path.1006.CrossRefPubMed Roylance R, Gorman P, Hanby A, Tomlinson I: Allelic imbalance analysis of chromosome 16q shows that grade I and grade III invasive ductal breast cancers follow different genetic pathways. J Pathol. 2002, 196: 32-36. 10.1002/path.1006.CrossRefPubMed
11.
go back to reference O'Connell P, Pekkel V, Fuqua S, Osborne CK, Allred DC: Molecular genetic studies of early breast cancer evolution. Breast Cancer Res Treat. 1994, 32: 5-12.CrossRefPubMed O'Connell P, Pekkel V, Fuqua S, Osborne CK, Allred DC: Molecular genetic studies of early breast cancer evolution. Breast Cancer Res Treat. 1994, 32: 5-12.CrossRefPubMed
12.
go back to reference Stratton MR, Collins N, Lakhani SR, Sloane JP: Loss of heterozygosity in ductal carcinoma in situ of the breast. J Pathol. 1995, 175: 195-201.CrossRefPubMed Stratton MR, Collins N, Lakhani SR, Sloane JP: Loss of heterozygosity in ductal carcinoma in situ of the breast. J Pathol. 1995, 175: 195-201.CrossRefPubMed
13.
go back to reference O'Connell P, Pekkel V, Fuqua SA, Osborne CK, Clark GM, Allred DC: Analysis of loss of heterozygosity in 399 premalignant breast lesions at 15 genetic loci. J Natl Cancer Inst. 1998, 90: 697-703. 10.1093/jnci/90.9.697.CrossRefPubMed O'Connell P, Pekkel V, Fuqua SA, Osborne CK, Clark GM, Allred DC: Analysis of loss of heterozygosity in 399 premalignant breast lesions at 15 genetic loci. J Natl Cancer Inst. 1998, 90: 697-703. 10.1093/jnci/90.9.697.CrossRefPubMed
14.
go back to reference Shen CY, Yu JC, Lo YL, Kuo CH, Yue CT, Jou YS, Huang CS, Lung JC, Wu CW: Genome-wide search for loss of heterozygosity using laser capture microdissected tissue of breast carcinoma: an implication for mutator phenotype and breast cancer pathogenesis. Cancer Res. 2000, 60: 3884-3892.PubMed Shen CY, Yu JC, Lo YL, Kuo CH, Yue CT, Jou YS, Huang CS, Lung JC, Wu CW: Genome-wide search for loss of heterozygosity using laser capture microdissected tissue of breast carcinoma: an implication for mutator phenotype and breast cancer pathogenesis. Cancer Res. 2000, 60: 3884-3892.PubMed
15.
go back to reference Farabegoli F, Champeme MH, Bieche I, Santini D, Ceccarelli C, Derenzini M, Lidereau R: Genetic pathways in the evolution of breast ductal carcinoma in situ. J Pathol. 2002, 196: 280-286. 10.1002/path.1048.CrossRefPubMed Farabegoli F, Champeme MH, Bieche I, Santini D, Ceccarelli C, Derenzini M, Lidereau R: Genetic pathways in the evolution of breast ductal carcinoma in situ. J Pathol. 2002, 196: 280-286. 10.1002/path.1048.CrossRefPubMed
16.
go back to reference Regitnig P, Moser R, Thalhammer M, Luschin-Ebengreuth G, Ploner F, Papadi H, Tsybrovskyy O, Lax SF: Microsatellite analysis of breast carcinoma and corresponding local recurrences. J Pathol. 2002, 198: 190-197. 10.1002/path.1193.CrossRefPubMed Regitnig P, Moser R, Thalhammer M, Luschin-Ebengreuth G, Ploner F, Papadi H, Tsybrovskyy O, Lax SF: Microsatellite analysis of breast carcinoma and corresponding local recurrences. J Pathol. 2002, 198: 190-197. 10.1002/path.1193.CrossRefPubMed
17.
go back to reference Moinfar F, Man YG, Arnould L, Bratthauer GL, Ratschek M, Tavassoli FA: Concurrent and independent genetic alterations in the stromal and epithelial cells of mammary carcinoma: implications for tumorigenesis. Cancer Res. 2000, 60: 2562-2566.PubMed Moinfar F, Man YG, Arnould L, Bratthauer GL, Ratschek M, Tavassoli FA: Concurrent and independent genetic alterations in the stromal and epithelial cells of mammary carcinoma: implications for tumorigenesis. Cancer Res. 2000, 60: 2562-2566.PubMed
18.
go back to reference Fujii H, Szumel R, Marsh C, Zhou W, Gabrielson E: Genetic progression, histological grade, and allelic loss in ductal carcinoma in situ of the breast. Cancer Res. 1996, 56: 5260-5265.PubMed Fujii H, Szumel R, Marsh C, Zhou W, Gabrielson E: Genetic progression, histological grade, and allelic loss in ductal carcinoma in situ of the breast. Cancer Res. 1996, 56: 5260-5265.PubMed
19.
go back to reference Koreth J, Bethwaite PB, McGee JOD: Mutations at chromosome 11q23 in human non-familial breast cancer: a microdissection microsatellite analysis. J Pathol. 1995, 176: 11-18.CrossRefPubMed Koreth J, Bethwaite PB, McGee JOD: Mutations at chromosome 11q23 in human non-familial breast cancer: a microdissection microsatellite analysis. J Pathol. 1995, 176: 11-18.CrossRefPubMed
20.
go back to reference Marcello Aldaz C, Chen T, Sahin A, Cunningham J, Bondy M: Comparative allelotype of in situ and invasive human breast cancer: high frequency of microsatellite instability in lobular breast carcinoma. Cancer Res. 1995, 55: 3976-3981. Marcello Aldaz C, Chen T, Sahin A, Cunningham J, Bondy M: Comparative allelotype of in situ and invasive human breast cancer: high frequency of microsatellite instability in lobular breast carcinoma. Cancer Res. 1995, 55: 3976-3981.
21.
go back to reference Allred DC, Clark GM, Molina R, Tandon AK, Schnitt SJ, Gilchrist KW, Osborne CK, Tormey DC, McGuire WL: Overexpression of HER-2/neu and its relationship with other prognostic factors change during the progression of in situ to invasive breast cancer. Hum Pathol. 1992, 23: 974-979.CrossRefPubMed Allred DC, Clark GM, Molina R, Tandon AK, Schnitt SJ, Gilchrist KW, Osborne CK, Tormey DC, McGuire WL: Overexpression of HER-2/neu and its relationship with other prognostic factors change during the progression of in situ to invasive breast cancer. Hum Pathol. 1992, 23: 974-979.CrossRefPubMed
22.
go back to reference Gusterson BA, Machin LG, Gullick WJ, Gibbs NM, Powles TJ, Price P, McKinna A, Harrison S: Immunohistochemical distribution of c-erbB-2 in infiltrating and in situ breast cancer. Int J. 1988, 42: 842-845. Gusterson BA, Machin LG, Gullick WJ, Gibbs NM, Powles TJ, Price P, McKinna A, Harrison S: Immunohistochemical distribution of c-erbB-2 in infiltrating and in situ breast cancer. Int J. 1988, 42: 842-845.
23.
go back to reference Sneige N, Wang J, Baker BA, Krishnamurthy S, Middleton LP: Clinical, histopathologic, and biologic features of pleomorphic lobular (ductal-lobular) carcinoma in situ of the breast: a report of 24 cases. Mod Pathol. 2002, 15: 1044-1050.CrossRefPubMed Sneige N, Wang J, Baker BA, Krishnamurthy S, Middleton LP: Clinical, histopathologic, and biologic features of pleomorphic lobular (ductal-lobular) carcinoma in situ of the breast: a report of 24 cases. Mod Pathol. 2002, 15: 1044-1050.CrossRefPubMed
24.
go back to reference Gusterson BA, Machin LG, Gullick WJ, Gibbs NM, Powles TJ, Elliott C, Ashley S, Monaghan P, Harrison S: c-erbB-2 expression in benign and malignant breast disease. Br J Cancer. 1988, 58: 453-457.CrossRefPubMedPubMedCentral Gusterson BA, Machin LG, Gullick WJ, Gibbs NM, Powles TJ, Elliott C, Ashley S, Monaghan P, Harrison S: c-erbB-2 expression in benign and malignant breast disease. Br J Cancer. 1988, 58: 453-457.CrossRefPubMedPubMedCentral
25.
go back to reference Poller DN, Roberts EC, Bell JA, Elston CW, Blamey RW, Ellis IO: p53 protein expression in mammary ductal carcinoma in situ: relationship to immunohistochemical expression of estrogen receptor and c-erbB-2 protein. Hum Pathol. 1993, 24: 463-468.CrossRefPubMed Poller DN, Roberts EC, Bell JA, Elston CW, Blamey RW, Ellis IO: p53 protein expression in mammary ductal carcinoma in situ: relationship to immunohistochemical expression of estrogen receptor and c-erbB-2 protein. Hum Pathol. 1993, 24: 463-468.CrossRefPubMed
26.
go back to reference Allred DC, O'Connell P, Fuqua SA, Osborne CK: Immunohistochemical studies of early breast cancer evolution. Breast Cancer Res Treat. 1994, 32: 13-18.CrossRefPubMed Allred DC, O'Connell P, Fuqua SA, Osborne CK: Immunohistochemical studies of early breast cancer evolution. Breast Cancer Res Treat. 1994, 32: 13-18.CrossRefPubMed
27.
go back to reference Done SJ, Arneson NC, Ozcelik H, Redston M, Andrulis IL: p53 mutations in mammary ductal carcinoma in situ but not in epithelial hyperplasias. Cancer Res. 1998, 58: 785-789.PubMed Done SJ, Arneson NC, Ozcelik H, Redston M, Andrulis IL: p53 mutations in mammary ductal carcinoma in situ but not in epithelial hyperplasias. Cancer Res. 1998, 58: 785-789.PubMed
28.
go back to reference Buerger H, Otterbach F, Simon R, Schafer KL, Poremba C, Diallo R, Brinkschmidt C, Dockhorn-Dworniczak B, Boecker W: Different genetic pathways in the evolution of invasive breast cancer are associated with distinct morphological subtypes. J Pathol. 1999, 189: 521-526. 10.1002/(SICI)1096-9896(199912)189:4<521::AID-PATH472>3.0.CO;2-B.CrossRefPubMed Buerger H, Otterbach F, Simon R, Schafer KL, Poremba C, Diallo R, Brinkschmidt C, Dockhorn-Dworniczak B, Boecker W: Different genetic pathways in the evolution of invasive breast cancer are associated with distinct morphological subtypes. J Pathol. 1999, 189: 521-526. 10.1002/(SICI)1096-9896(199912)189:4<521::AID-PATH472>3.0.CO;2-B.CrossRefPubMed
29.
go back to reference Lishman SC, Lakhani SR: Atypical lobular hyperplasia and lobular carcinoma in situ: surgical and molecular pathology. Histopathology. 1999, 35: 195-200. 10.1046/j.1365-2559.1999.00815.x.CrossRefPubMed Lishman SC, Lakhani SR: Atypical lobular hyperplasia and lobular carcinoma in situ: surgical and molecular pathology. Histopathology. 1999, 35: 195-200. 10.1046/j.1365-2559.1999.00815.x.CrossRefPubMed
30.
go back to reference Goldschmidt RA, Victor TA: Lobular carcinoma in situ of the breast. Semin Surg Oncol. 1996, 12: 314-320. 10.1002/(SICI)1098-2388(199609/10)12:5<314::AID-SSU5>3.3.CO;2-Q.CrossRefPubMed Goldschmidt RA, Victor TA: Lobular carcinoma in situ of the breast. Semin Surg Oncol. 1996, 12: 314-320. 10.1002/(SICI)1098-2388(199609/10)12:5<314::AID-SSU5>3.3.CO;2-Q.CrossRefPubMed
31.
go back to reference Etzell JE, Devries S, Chew K, Florendo C, Molinaro A, Ljung BM, Waldman FM: Loss of chromosome 16q in lobular carcinoma in situ. Hum Pathol. 2001, 32: 292-296. 10.1053/hupa.2001.22759.CrossRefPubMed Etzell JE, Devries S, Chew K, Florendo C, Molinaro A, Ljung BM, Waldman FM: Loss of chromosome 16q in lobular carcinoma in situ. Hum Pathol. 2001, 32: 292-296. 10.1053/hupa.2001.22759.CrossRefPubMed
32.
go back to reference Lu YJ, Osin P, Lakhani SR, Di Palma S, Gusterson BA, Shipley JM: Comparative genomic hybridization analysis of lobular carcinoma in situ and atypical lobular hyperplasia and potential roles for gains and losses of genetic material in breast neoplasia. Cancer Res. 1998, 5820: 4721-4727. Lu YJ, Osin P, Lakhani SR, Di Palma S, Gusterson BA, Shipley JM: Comparative genomic hybridization analysis of lobular carcinoma in situ and atypical lobular hyperplasia and potential roles for gains and losses of genetic material in breast neoplasia. Cancer Res. 1998, 5820: 4721-4727.
33.
go back to reference Nishizaki T, Chew K, Chu L, Isola J, Kallioniemi A, Weidner N, Waldman FM: Genetic alterations in lobular breast cancer by comparative genomic hybridization. Int J Cancer. 1997, 74: 513-517. 10.1002/(SICI)1097-0215(19971021)74:5<513::AID-IJC6>3.3.CO;2-X.CrossRefPubMed Nishizaki T, Chew K, Chu L, Isola J, Kallioniemi A, Weidner N, Waldman FM: Genetic alterations in lobular breast cancer by comparative genomic hybridization. Int J Cancer. 1997, 74: 513-517. 10.1002/(SICI)1097-0215(19971021)74:5<513::AID-IJC6>3.3.CO;2-X.CrossRefPubMed
34.
go back to reference Lakhani S, Collins N, Sloane J, Stratton M: Loss of heterozygosity in lobular carcinoma in situ of the breast. J Clin Pathol: Mol Pathol. 1995, 48: M74-M78. Lakhani S, Collins N, Sloane J, Stratton M: Loss of heterozygosity in lobular carcinoma in situ of the breast. J Clin Pathol: Mol Pathol. 1995, 48: M74-M78.
35.
go back to reference Nayar R, Zhuang Z, Merino MJ, Silverberg SG: Loss of heterozygosity on chromosome 11q13 in lobular lesions of the breast using tissue microdissection and polymerase chain reaction. Hum Pathol. 1997, 28: 277-282.CrossRefPubMed Nayar R, Zhuang Z, Merino MJ, Silverberg SG: Loss of heterozygosity on chromosome 11q13 in lobular lesions of the breast using tissue microdissection and polymerase chain reaction. Hum Pathol. 1997, 28: 277-282.CrossRefPubMed
36.
go back to reference Keller G, Vogelsang H, Becker I, Hutter J, Ott K, Candidus S, Grundei T, Becker KF, Mueller J, Siewert JR, Hofler H: Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation. Am J Pathol. 1999, 155: 337-342.CrossRefPubMedPubMedCentral Keller G, Vogelsang H, Becker I, Hutter J, Ott K, Candidus S, Grundei T, Becker KF, Mueller J, Siewert JR, Hofler H: Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation. Am J Pathol. 1999, 155: 337-342.CrossRefPubMedPubMedCentral
37.
go back to reference Peralta Soler A, Knudsen KA, Salazar H, Han AC, Keshgegian AA: P-cadherin expression in breast carcinoma indicates poor survival. Cancer. 1999, 86: 1263-1272. 10.1002/(SICI)1097-0142(19991001)86:7<1263::AID-CNCR23>3.3.CO;2-U.CrossRefPubMed Peralta Soler A, Knudsen KA, Salazar H, Han AC, Keshgegian AA: P-cadherin expression in breast carcinoma indicates poor survival. Cancer. 1999, 86: 1263-1272. 10.1002/(SICI)1097-0142(19991001)86:7<1263::AID-CNCR23>3.3.CO;2-U.CrossRefPubMed
38.
go back to reference Droufakou S, Deshmane V, Roylance R, Hanby A, Tomlinson I, Hart IR: Multiple ways of silencing E-cadherin gene expression in lobular carcinoma of the breast. Int J Cancer. 2001, 92: 404-408. 10.1002/ijc.1208.CrossRefPubMed Droufakou S, Deshmane V, Roylance R, Hanby A, Tomlinson I, Hart IR: Multiple ways of silencing E-cadherin gene expression in lobular carcinoma of the breast. Int J Cancer. 2001, 92: 404-408. 10.1002/ijc.1208.CrossRefPubMed
39.
go back to reference Roylance R, Droufakou S, Gorman P, Gillett C, Hart IR, Hanby A, Tomlinson I: The role of E-cadherin in low-grade ductal breast tumourigenesis. J Pathol. 2003, 200: 53-58. 10.1002/path.1326.CrossRefPubMed Roylance R, Droufakou S, Gorman P, Gillett C, Hart IR, Hanby A, Tomlinson I: The role of E-cadherin in low-grade ductal breast tumourigenesis. J Pathol. 2003, 200: 53-58. 10.1002/path.1326.CrossRefPubMed
40.
go back to reference Berx G, Cleton-Jansen AM, Nollet F, de Leeuw WJ, van de Vijver M, Cornelisse C, van Roy F: E-Cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. EMBO J. 1995, 14: 6107-6115.PubMedPubMedCentral Berx G, Cleton-Jansen AM, Nollet F, de Leeuw WJ, van de Vijver M, Cornelisse C, van Roy F: E-Cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. EMBO J. 1995, 14: 6107-6115.PubMedPubMedCentral
41.
go back to reference Vos CB, Cleton-Jansen AM, Berx G, de Leeuw WJ, ter Haar NT, van Roy F, Cornelisse CJ, Peterse JL, van de Vijver MJ: E-cadherin inactivation in lobular carcinoma in situ of the breast: an early event in tumorigenesis. Br J Cancer. 1997, 76: 1131-1133.CrossRefPubMedPubMedCentral Vos CB, Cleton-Jansen AM, Berx G, de Leeuw WJ, ter Haar NT, van Roy F, Cornelisse CJ, Peterse JL, van de Vijver MJ: E-cadherin inactivation in lobular carcinoma in situ of the breast: an early event in tumorigenesis. Br J Cancer. 1997, 76: 1131-1133.CrossRefPubMedPubMedCentral
42.
go back to reference Gamallo C, Palacios J, Suarez A, Pizarro A, Navarro P, Quintanilla M, Cano A: Correlation of E-cadherin expression with differentiation grade and histological type in breast carcinoma. Am J Pathol. 1993, 142: 987-993.PubMedPubMedCentral Gamallo C, Palacios J, Suarez A, Pizarro A, Navarro P, Quintanilla M, Cano A: Correlation of E-cadherin expression with differentiation grade and histological type in breast carcinoma. Am J Pathol. 1993, 142: 987-993.PubMedPubMedCentral
43.
go back to reference Rasbridge SA, Gillett CE, Sampson SA, Walsh FS, Millis RR: Epithelial (E-) and placental (P-) cadherin cell adhesion molecule expression in breast carcinoma. J Pathol. 1993, 169: 245-250.CrossRefPubMed Rasbridge SA, Gillett CE, Sampson SA, Walsh FS, Millis RR: Epithelial (E-) and placental (P-) cadherin cell adhesion molecule expression in breast carcinoma. J Pathol. 1993, 169: 245-250.CrossRefPubMed
44.
go back to reference Jacobs TW, Pliss N, Kouria G, Schnitt SJ: Carcinomas in situ of the breast with indeterminate features: role of E-cadherin staining in categorization. Am J Surg Pathol. 2001, 25: 229-36.CrossRefPubMed Jacobs TW, Pliss N, Kouria G, Schnitt SJ: Carcinomas in situ of the breast with indeterminate features: role of E-cadherin staining in categorization. Am J Surg Pathol. 2001, 25: 229-36.CrossRefPubMed
45.
go back to reference Maluf HM, Swanson PE, Koerner FC: Solid low-grade in situ carcinoma of the breast: role of associated lesions and E-cadherin in differential diagnosis. Am J Surg Pathol. 2001, 25: 237-244.CrossRefPubMed Maluf HM, Swanson PE, Koerner FC: Solid low-grade in situ carcinoma of the breast: role of associated lesions and E-cadherin in differential diagnosis. Am J Surg Pathol. 2001, 25: 237-244.CrossRefPubMed
46.
go back to reference Rahman N, Stone JG, Coleman G, Gusterson B, Seal S, Marossy A, Lakhani SR, Ward A, Nash A, McKinna A, A'Hern R, Stratton MR, Houlston RS: Lobular carcinoma in situ of the breast is not caused by constitutional mutations in the E-cadherin gene. Br J Cancer. 2000, 82: 68-70. Rahman N, Stone JG, Coleman G, Gusterson B, Seal S, Marossy A, Lakhani SR, Ward A, Nash A, McKinna A, A'Hern R, Stratton MR, Houlston RS: Lobular carcinoma in situ of the breast is not caused by constitutional mutations in the E-cadherin gene. Br J Cancer. 2000, 82: 68-70.
47.
go back to reference Bratthauer GL, Moinfar F, Stamatakos MD, Mezzetti TP, Shekitka KM, Man YG, Tavassoli FA: Combined E-cadherin and high molecular weight cytokeratin immunoprofile differentiates lobular, ductal, and hybrid mammary intraepithelial neoplasias. Hum Pathol. 2002, 33: 620-627. 10.1053/hupa.2002.124789.CrossRefPubMed Bratthauer GL, Moinfar F, Stamatakos MD, Mezzetti TP, Shekitka KM, Man YG, Tavassoli FA: Combined E-cadherin and high molecular weight cytokeratin immunoprofile differentiates lobular, ductal, and hybrid mammary intraepithelial neoplasias. Hum Pathol. 2002, 33: 620-627. 10.1053/hupa.2002.124789.CrossRefPubMed
48.
go back to reference Page DL, Rogers LW: Combined histologic and cytologic criteria for the diagnosis of mammary atypical ductal hyperplasia. Hum Pathol. 1992, 23: 1095-1097.CrossRefPubMed Page DL, Rogers LW: Combined histologic and cytologic criteria for the diagnosis of mammary atypical ductal hyperplasia. Hum Pathol. 1992, 23: 1095-1097.CrossRefPubMed
49.
50.
go back to reference Schnitt SJ, Connolly JL, Tavassoli FA, Fechner RE, Kempson RL, Gelman R, Page DL: Interobserver reproducibility in the diagnosis of ductal proliferative breast lesions using standardized criteria. Am J Surg Pathol. 1992, 16: 1133-1143.CrossRefPubMed Schnitt SJ, Connolly JL, Tavassoli FA, Fechner RE, Kempson RL, Gelman R, Page DL: Interobserver reproducibility in the diagnosis of ductal proliferative breast lesions using standardized criteria. Am J Surg Pathol. 1992, 16: 1133-1143.CrossRefPubMed
51.
go back to reference Sloane JP, Ellman R, Anderson TJ, Brown CL, Coyne J, Dallimore NS, Davies JD, Eakins D, Ellis IO, Elston CW: Consistency of histopathological reporting of breast lesions detected by screening: findings of the U.K. National External Quality Assessment (EQA) Scheme. Eur J Cancer. 1994, 30A: 1414-1419.CrossRefPubMed Sloane JP, Ellman R, Anderson TJ, Brown CL, Coyne J, Dallimore NS, Davies JD, Eakins D, Ellis IO, Elston CW: Consistency of histopathological reporting of breast lesions detected by screening: findings of the U.K. National External Quality Assessment (EQA) Scheme. Eur J Cancer. 1994, 30A: 1414-1419.CrossRefPubMed
52.
go back to reference Lakhani SR, Collins N, Stratton MR, Sloane JP: Atypical ductal hyperplasia of the breast: clonal proliferation with loss of heterozygosity on chromosomes 16q and 17p. J Clin Pathol. 1995, 48: 611-615.CrossRefPubMedPubMedCentral Lakhani SR, Collins N, Stratton MR, Sloane JP: Atypical ductal hyperplasia of the breast: clonal proliferation with loss of heterozygosity on chromosomes 16q and 17p. J Clin Pathol. 1995, 48: 611-615.CrossRefPubMedPubMedCentral
53.
go back to reference Amari M, Suzuki A, Moriya T, Yoshinaga K, Amano G, Sasano H, Ohuchi N, Satomi S, Horii A: LOH analyses of premalignant and malignant lesions of human breast: frequent LOH in 8p, 16q, and 17q in atypical ductal hyperplasia. Oncol Rep. 1999, 6: 1277-1280.PubMed Amari M, Suzuki A, Moriya T, Yoshinaga K, Amano G, Sasano H, Ohuchi N, Satomi S, Horii A: LOH analyses of premalignant and malignant lesions of human breast: frequent LOH in 8p, 16q, and 17q in atypical ductal hyperplasia. Oncol Rep. 1999, 6: 1277-1280.PubMed
54.
go back to reference Gong G, DeVries S, Chew KL, Cha I, Ljung BM, Waldman FM: Genetic changes in paired atypical and usual ductal hyperplasia of the breast by comparative genomic hybridization. Clin Cancer Res. 2001, 7: 2410-2414.PubMed Gong G, DeVries S, Chew KL, Cha I, Ljung BM, Waldman FM: Genetic changes in paired atypical and usual ductal hyperplasia of the breast by comparative genomic hybridization. Clin Cancer Res. 2001, 7: 2410-2414.PubMed
55.
go back to reference Lakhani S, Slack D, Hamoudi R, Collins N, Stratton M, Sloane J: Detection of alleleic imbalance indicates that a proportion of mammary hyperplasia of usual type are clonal, neoplastic proliferations. Lab Invest. 1996, 74: 129-135.PubMed Lakhani S, Slack D, Hamoudi R, Collins N, Stratton M, Sloane J: Detection of alleleic imbalance indicates that a proportion of mammary hyperplasia of usual type are clonal, neoplastic proliferations. Lab Invest. 1996, 74: 129-135.PubMed
56.
go back to reference Washington C, Dalbegue F, Abreo F, Taubenberger JK, Lichy JH: Loss of heterozygosity in fibrocystic change of the breast: genetic relationship between benign proliferative lesions and associated carcinomas. Am J Pathol. 2000, 157: 323-329.CrossRefPubMedPubMedCentral Washington C, Dalbegue F, Abreo F, Taubenberger JK, Lichy JH: Loss of heterozygosity in fibrocystic change of the breast: genetic relationship between benign proliferative lesions and associated carcinomas. Am J Pathol. 2000, 157: 323-329.CrossRefPubMedPubMedCentral
57.
go back to reference Jones C, Merrett S, Thomas VA, Barker TH, Lakhani SR: Comparative genomic hybridization analysis of bilateral hyperplasia of usual type of the breast. J Pathol. 2003, 199: 152-156.CrossRefPubMed Jones C, Merrett S, Thomas VA, Barker TH, Lakhani SR: Comparative genomic hybridization analysis of bilateral hyperplasia of usual type of the breast. J Pathol. 2003, 199: 152-156.CrossRefPubMed
58.
go back to reference Goldstein NS, O'Malley BA: Cancerization of small ectatic ducts of the breast by ductal carcinoma in situ cells with apocrine snouts: a lesion associated with tubular carcinoma. Am J Clin Pathol. 1997, 107: 561-566.CrossRefPubMed Goldstein NS, O'Malley BA: Cancerization of small ectatic ducts of the breast by ductal carcinoma in situ cells with apocrine snouts: a lesion associated with tubular carcinoma. Am J Clin Pathol. 1997, 107: 561-566.CrossRefPubMed
59.
go back to reference Fraser JL, Raza S, Chorny K, Connolly JL, Schnitt SJ: Columnar alteration with prominent apical snouts and secretions: a spectrum of changes frequently present in breast biopsies performed for microcalcifications. Am J Surg Pathol. 1998, 22: 1521-1527. 10.1097/00000478-199812000-00009.CrossRefPubMed Fraser JL, Raza S, Chorny K, Connolly JL, Schnitt SJ: Columnar alteration with prominent apical snouts and secretions: a spectrum of changes frequently present in breast biopsies performed for microcalcifications. Am J Surg Pathol. 1998, 22: 1521-1527. 10.1097/00000478-199812000-00009.CrossRefPubMed
60.
go back to reference Moinfar F, Man YG, Bratthauer GL, Ratschek M, Tavassoli FA: Genetic abnormalities in mammary ductal intraepithelial neoplasia-flat type ("clinging ductal carcinoma in situ"): a simulator of normal mammary epithelium. Cancer. 2000, 88: 2072-2081. 10.1002/(SICI)1097-0142(20000501)88:9<2072::AID-CNCR13>3.3.CO;2-8.CrossRefPubMed Moinfar F, Man YG, Bratthauer GL, Ratschek M, Tavassoli FA: Genetic abnormalities in mammary ductal intraepithelial neoplasia-flat type ("clinging ductal carcinoma in situ"): a simulator of normal mammary epithelium. Cancer. 2000, 88: 2072-2081. 10.1002/(SICI)1097-0142(20000501)88:9<2072::AID-CNCR13>3.3.CO;2-8.CrossRefPubMed
61.
go back to reference Deng G, Lu Y, Zlotnikov G, Thor AD, Smith HS: Loss of heterozygosity in normal tissue adjacent to breast carcinomas. Science. 1996, 274: 2057-2059. 10.1126/science.274.5295.2057.CrossRefPubMed Deng G, Lu Y, Zlotnikov G, Thor AD, Smith HS: Loss of heterozygosity in normal tissue adjacent to breast carcinomas. Science. 1996, 274: 2057-2059. 10.1126/science.274.5295.2057.CrossRefPubMed
62.
go back to reference Larson PS, de las Morenas A, Cupples LA, Huang K, Rosenberg CL: Genetically abnormal clones in histologically normal breast tissue. Am J Pathol. 1998, 152: 1591-1598.PubMedPubMedCentral Larson PS, de las Morenas A, Cupples LA, Huang K, Rosenberg CL: Genetically abnormal clones in histologically normal breast tissue. Am J Pathol. 1998, 152: 1591-1598.PubMedPubMedCentral
63.
go back to reference Lakhani SR, Chaggar R, Davies S, Jones C, Collins N, Odell C, Stratton MR, O'Hare M: Loss of heterozygosity (LOH) in normal luminal and myoepithelial cells of the breast. J Pathol. 1999, 189: 496-503. 10.1002/(SICI)1096-9896(199912)189:4<496::AID-PATH485>3.3.CO;2-4.CrossRefPubMed Lakhani SR, Chaggar R, Davies S, Jones C, Collins N, Odell C, Stratton MR, O'Hare M: Loss of heterozygosity (LOH) in normal luminal and myoepithelial cells of the breast. J Pathol. 1999, 189: 496-503. 10.1002/(SICI)1096-9896(199912)189:4<496::AID-PATH485>3.3.CO;2-4.CrossRefPubMed
64.
go back to reference Li Z, Moore DH, Meng ZH, Ljung BM, Gray JW, Dairkee SH: Increased risk of local recurrence is associated with allelic loss in normal lobules of breast cancer patients. Cancer Res. 2002, 62: 1000-1003.PubMed Li Z, Moore DH, Meng ZH, Ljung BM, Gray JW, Dairkee SH: Increased risk of local recurrence is associated with allelic loss in normal lobules of breast cancer patients. Cancer Res. 2002, 62: 1000-1003.PubMed
Metadata
Title
The diagnosis and management of pre-invasive breast disease Genetic alterations in pre-invasive lesions
Authors
Jorge S Reis-Filho
Sunil R Lakhani
Publication date
01-12-2003
Publisher
BioMed Central
Published in
Breast Cancer Research / Issue 6/2003
Electronic ISSN: 1465-542X
DOI
https://doi.org/10.1186/bcr650

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