BRCA1 and BRCA2 mutation carriership is associated with a highly increased risk of developing breast carcinoma. For women carrying a BRCA mutation, the risk of breast cancer begins to increase before the age of 25, with a steep increase after the age of 40 years. The cumulative risk of developing breast cancer before the age of 40 years is ∼ 15%, while the cumulative risk of developing breast cancer before the age of 50 is 40–50% (Ford et al., 1998). The life time risk of invasive breast cancer is 60–80%. Very little is known regarding the early stages of breast cancer development in the inherited forms of the disease. Women with hereditary predisposition to breast cancer are prone to develop epithelial lesions that indicate a high risk of subsequent invasive breast cancer (Dupont and Page, 1985; Hoogerbrugge et al., 2003). These high-risk lesions include atypical lobular hyperplasia (ALH), atypical ductal hyperplasia (ADH), lobular carcinoma in situ (LCIS), and ductal carcinoma in situ (DCIS) (Kauff et al., 2003). These epithelial lesions may predict the occurrence of subsequent invasive breast cancer (Singletary, 1994).
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Bramley, M., Clarke, R.B., Howell, A., Evans, D.G.R., Armer, T., Baildam, A.D., and Anderson, E. 2006. Effects of oestrogens and anti-oestrogens on normal breast tissue from women bearing BRCA1 and BRCA2 mutations. Br. J. Cancer 94: 1021–1028
Claus, E.B., Petruzella, S., Matloff, E., and Carter, D. 2005. Prevalence of BRCA1 and BRCA2 mutations in women diagnosed with ductal car cinoma in situ. J. A. M. A. 293: 964–969
Dupont, W.D., and Page, D.L. 1985. Risk factors for breast cancer in women with proliferative breast disease. New. Eng. J. Med. 312: 146–151
Easton, D.F., Deffenbaugh, A.M., Pruss, D., Frye, C., Wenstrup, R.J., Allen-Brady, K., Tavtigian, S.V., Monteiro, A.N., Iversen, E.S., Couch, F.J., and Goldgar, D.E. 2007. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am. J. Hum. Genet. 81: 873–883
Egan, R.L. 1982. Multicentric breast carcinomas: clinical-radiographic-pathologic whole organ stud ies and 10-year survival. Cancer 49: 1123–1130
Ford, D., Easton, D.F., Stratton, M., Narod, S., Goldgar, D., Devilee, P., Bishop, D.T., Weber, B., Lenoir, G., Chang-Claude, J., Sobol, H., Teare, M.D., Struewing, J., Arason, A., Scherneck, S., Peto, J., Rebbeck, T.R., Tonin, P. , Neuhausen, S., Barkardottir, R., Eyfjord, J., Lynch, H., Ponder, B.A.J., Gayther, S.A., Birch, J.M., Lindblom, A., Stoppa-Lyonnet, D., Bignon, Y. , Borg, A., Hamann, U., Haites, N., Scott, R.J., Maugard, C.M., and Vasen, H. 1998. Genetic heterogeneity and penetrance analysis of BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am. J. Hum. Genet. 62: 676–689
Gamallo, C., Palacios, J., Suarez, A., Pizarro, A., Navarro, P., Quintanilla, M., and Cano, A. 1993. Correlation of E-cadherin expression with dif ferentiation grade and histological type in breast carcinoma. Am. J. Pathol. 142: 987–993
Holland, R., Veling, S.H., Mravunac, M., and Hendriks, J.H. 1985. Pathologic multifocality of Tis, T1-2 breast carcinomas. Implications for clinical trials of breast-conserving surgery. Cancer 56: 979–990
Holland, R., Peterse, J.L., Millis, R.R., Eusebi, V. , Faverly, D., van de Vijver, M.J., and Zafrani, B. 1994. Ductal carcinoma-in-situ: a proposal for a new classification. Semin. Diagn. Path. 11: 167–180
Honrado, E., Benítez, J., and Palacios, J. 2006. Histopathology of BRCA1- and BRCA2-associ ated breast cancer. Crit. Rev. Oncol. Hematol. 59: 27–39
Hoogerbrugge, N., Bult, P., de Widt-Levert, L.M., Beex, L.V., Kiemeney, L.A., Ligtenberg, M.J., Massuger, L.F., Boetes, C., Manders, P., and Brunner, H.G. 2003. High prevalence of pre-malignant lesions in prophylactically removed breasts from women at hereditary risk for breast cancer. J. Clin. Oncol. 21: 41–45
Hoogerbrugge, N., Bult, P., Bonenkamp, J.J., Ligtenberg, M.J., Kiemeney, L.A., de Hullu, J.A., Boetes, C., Niermeijer, M.F., and Brunner, H.G. 2006. Numerous high-risk epithelial lesions in familial breast cancer. Eur. J. Cancer 42: 2492–2498
Hutter, R.V. 1984. The management of patients with lobular carcinoma in situ of the breast. Cancer 53: 798–802
Hwang, E.S., McLennan, J.L., Moore, D.H., Crawford, B.B., Esserman, L.J., and Ziegler, J.L. 2007. Ductal carcinoma in situ in BRCA muta tion carriers. J. Clin. Oncol. 25: 642–647
Kauff, N.D., Brogi, E., Scheuer, L., Pathak, D.R., Borgen, P.I., Hudis, C.A., Offit, K., and Robson, M.E. 2003. Epithelial lesions in prophylac tic mastectomy specimens from women with BRCA mutations. Cancer 97: 1601–1608
Kriege, M., Brekelmans, C.T.M., Boetes, C., Besnard, P.E., Zonderland, H.M., Obdeijn, I.M., Manoliu, R.A., Kok, T., Peterse, H., Tilanus-Linthorst, M.M.A., Muller, S.H., Meijer, S., Oosterwijk, J.C., Beex, L.V.A.M., Tollenaar, R.A.E.M., de Koning, H.J., Rutgers, E.J.T., and Klijn, J.G., for the Magnetic Resonance Imaging Screening Study Group. 2004. Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposi tion. N. Engl. J. Med. 351: 427–437
Lakhani, S.R., Audretsch, W., Cleton-Jensen, A.M., Cutuli, B., Ellis, I., Eusebi, V. , Greco, M., Houslton, R.S., Kuhl, C.K., Kurtz, J., Palacios, J., Peterse, H., Rochard, F., and Rutgers, E., on behalf of EUSOMA. 2006. The management of lobular carcinoma in situ (LCIS). Is LCIS the same as ductal carcinoma in situ (DCIS)? Eur. J. Cancer 42: 2205–2211
Lostumbo, L., Carbine, N., Wallace, J., and Ezzo, J. 2004. Prophylactic mastectomy for the preven tion of breast cancer. Cochrane. Database. Syst. Rev. Oct 18: CD002748
Meijers-Heijboer, H., van Geel, B., van Putten, W.L.J., Henzen-Logmans, S.C., Seynaeve, C., Menke-Pluymers, M.B.E., Bartels, C.C.M., Verhoog, L.C., van den Ouweland, A.M.W., Niermeijer, M.F., Brekelmans, C.T.M., and Klijn, J.G.M. 2001. Breast cancer after prophy lactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N. Engl. J. Med. 345: 159–164
Metcalfe, K., Lynch, H.T., Chadirian, P., Tung, N., Olivotto, V. , Warner, E., Olopade, O.I., Eisen, A., Weber, B., McLennan, J., Sun, P., Foulkes, W.D., and Narod, S.A. 2004. Contralateral breast can cer in BRCA1 and BRCA2 mutation carriers. J. Clin. Oncol. 22: 2328–2335
Page, D.L., and Rogers, L.W. 1992. Combined histologic and cytologic criteria for the diagnosis of mammary atypical ductal hyperplasia. Hum. Pathol. 23: 1095–1097
Pinder, S.E., and Ellis, I.O. 2003. The diagnosis and management of pre-invasive breast disease: duc tal carcinoma in situ (DCIS) and atypical ductal hyperplasia (ADH) — current definitions and clas sification. Breast Cancer Res. 5: 254–257
Rebbeck, T.R., Friebel, T., Lynch, H.T., Neuhausen, S.L., van 't Veer, L., Garber, J.E., Evans, G.R., Narod, S.A., Isaacs, C., Matloff, E., Daly, M.B., Olopade, O.I., and Weber, B.L. 2004. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J. Clin. Oncol. 22: 1055–1062
van Roosmalen, M.S., Stalmeier, P.F., Verhoef, L.C., Hoogerbrugge, N., and van Daal, W.A.J. 2002. Decision analysis of prophylactic surgery or screening for BRCA1 mutation carriers: a more prominent role for oophorectomy. J. Clin. Oncol. 20: 2092–3000
Rosen, P.P., Braun, D.W., and Kinne, D.W. 1980. The clinical significance of pre-invasive breast carcinoma. Cancer 46: 35–51
Simpson, P.T., Gale, T., Fulford, L.G., Reis, J.S., and Lakhani, S.R. 2003. The diagnosis and management of pre-invasive breast disease: pathology of atypical lobular hyperplasia and lobular carcinoma in situ. Breast Cancer Res. 5: 258–262
Singletary, S.E. 1994. Lobular carcinoma in situ of the breast: 31 year experience at the University of Texas, M.D. Anderson Cancer Center. Breast Dis. 7: 157–163
Sun, C.C., Lenoir, G., Lynch, H., and Narod, S.A. 1996. In-situ breast cancer and BRCA1. Lancet 348: 408
Tavassoli, F.A., and Devilee, P. , editors. 2003. World Health Organisation Classification of tumours: pathology and genetics of tumours of the breast and female genital organs. Lyon: IARC Press
Verhoog, L.C., Brekelmans, C.T., Seynaeve, C., Meijers-Heijboer, E.J., and Klijn, J.G. 2000. Contralateral breast cancer risk is influenced by the age at onset in BRCA1 associated breast cancer. Br. J. Cancer 83: 384–386
Welch, H.G., and Black, W.C. 1997. Using autopsy series to estimate the disease “reservoir” for ductal carcinoma in situ of the breast: how much more breast cancer can we find? Ann. Intern. Med. 127: 1023–1028
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Bult, P., Hoogerbrugge, N. (2008). Familial Breast Cancer: Detection of Prevalent High-Risk Epithelial Lesions. In: Hayat, M.A. (eds) Methods of Cancer Diagnosis, Therapy and Prognosis. Methods of Cancer Diagnosis, Therapy and Prognosis, vol 1. Springer, Dordrecht. https://doi.org/10.1007/978-1-4020-8369-3_6
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