Hereditary predisposition to breast cancer accounts for approximately 5–10% of all breast cancers. The primary syndrome associated with an increased risk of breast cancer is hereditary breast and ovarian cancer syndrome, which is caused by mutations in the BRCA1 and BRCA2 genes. However, there are other hereditary cancer syndromes associated with an increased risk of breast cancer, including Li-Fraumeni syndrome, Cowden disease, Peutz-Jeghers syndrome, hereditary diffuse gastric cancer, and ataxia-telangiectasia. Genetic counseling and testing is a key component in the identification of individuals affected by these hereditary breast cancer syndromes. Genetic counseling is the process of educating patients and their families about inherited cancer risks based on their personal and family history and discussing the benefits, risks, limitations, and possible results of genetic testing. Once individuals are identified as having a hereditary breast cancer syndrome, they can be more effectively counseled regarding specific screening and prevention modalities, including chemoprevention and prophylactic surgeries.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsPreview
Unable to display preview. Download preview PDF.
References
American Society of Clinical Oncology (ASCO). American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 2003;21:2397–2406.
Arun B, Goss P. The role of COX-2 inhibition in breast cancer treatment and prevention. Semin Oncol 2004;31:22–29.
Blackwood A, Weber BL. BRCA1 and BRCA2: from molecular genetics to clinical medicine. J Clin Oncol 1998;16:1969–1977.
Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 1999;91:1310–1316.
Brinton LA, Schairer C, Hoover RN, et al. Menstrual factors and risk of breast cancer. Cancer Invest 1988;6:245–254.
Burke W, Daly M, Garber J, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA 1997;277:997–1003.
Chlebowski RT, Col N, Winer EP, et al. American Society of Clinical Oncology technology assessment of pharmacologic interventions for breast cancer risk reduction including tamoxifen, raloxifene, and aromatase inhibition. J Clin Oncol 2002;20:3328–3343.
Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer 1994;73:643–651.
Cummings S, Olopade OI. Predisposition testing for breast cancer. Oncology 1998;12:1227–1242.
Daly M. NCCN proceedings: genetics/familial high-risk cancer screening. Oncology 1999;13:161–183.
Dorval M, Patenaude AF, Schneider KA, et al. Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: findings from p53 and BRCA1 testing programs. J Clin Oncol 2000;18:2135–2142.
Eng C. Genetics of Cowden syndrome: through the looking glass of oncology. Int J Oncol 1998;12:701–710.
Fisher B, Costantino JP, Wickerham DL, et al. Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. J Natl Cancer Inst 1998;90:1371–1388.
Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998;62:676–689.
Frank TS, Manley SA, Olopade OI, et al. Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 1998;16:2417–2425.
Hartmann LC, Schaid D, Sellers T. Bilateral prophylactic mastectomy (PM) in BRCA1/2 mutation carriers. In: Proceedings of the 91st Annual Meeting of the American Association for Cancer Research; April 1–5, 2000; San Francisco, CA. Abstract 1417.
Hartmann LC, Schaid DJ, Woods JE, et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med 1999;340:77–84.
Kauff ND, Satagopan JM, Robson ME, et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2002;346:1609–1615.
King MC, Wieand S, Hale K, et al. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA 2001;286:2251–2256.
Komenaka IK, Ditkoff BA, Joseph KA, et al. The development of interval breast malignancies in patients with BRCA mutations. Cancer 2004;100:2079–2083.
Kriege M, Brekelmans CT, Boetes C, et al. Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med 2004;351:427–437.
Lerman C, Hughes C, Lemon SJ, et al. What you don’t know can hurt you: adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing. J Clin Oncol 1998;16:1650–1654.
Lindor NM, Greene MH. The concise handbook of family cancer syndromes. Mayo Familial Cancer Program. J Natl Cancer Inst 1998;90:1039–1071.
Meijer WJ, van Lindert AC. Prophylactic oophorectomy. Eur J Obstet Gynecol Reprod Biol 1992;47:59–65.
Meijers-Heijboer H, van den Ouweland A, Klijn J, et al. Low-penetrance susceptibility to breast cancer due to CHEK2(*) 1100delC in noncarriers of BRCA1 or BRCA2 mutation carriers. Nat Genet 2002;31:55–59.
Meijers-Heijboer H, van Geel B, van Putten WL, et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2001;345:159–164.
Narod SA, Brunet JS, Ghadirian P, et al. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet 2000;356:1876–1881.
National Comprehensive Cancer Network (NCCN). Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian. v.1.2007. Available at http://www.nccn.org/professionals/physician_gls/PDF/genetics_screening.pdf.
Parazzini F, Braga C, La Vecchia C, et al. Hysterectomy, oophorectomy in premenopause, and risk of breast cancer. Obstet Gynecol 1997;90:453–456.
Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 1998;62:145–158.
Phelan CM, Lancaster JM, Tonin P, et al. Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nat Genet 1996;13:120–122.
Phillips KA, Andrulis IL, Goodwin PJ. Breast carcinomas arising in carriers of mutations in BRCA1 or BRCA2: are they prognostically different? J Clin Oncol 1999;17:3653–3663.
Rebbeck TR, Levin AM, Eisen A, et al. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst 1999;91:1475–1479.
Rebbeck TR, Friebel T, Lynch HT, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 2004;22:1055–1062.
Rebbeck TR, Lynch HT, Neuhausen SL, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002;346:1616–1622.
Rieger PT, Pentz RB. Genetic testing and informed consent. Semin Oncol Nurs 1999;15:104–115.
Saslow D, Boetes C, Burke W, et al. American Cancer Society Guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin 2007;57:75–89.
Schairer C, Persson I, Falkeborn M, et al. Breast cancer risk associated with gynecologic surgery and indications for such surgery. Int J Cancer 1997;70: 150–154.
Scheuer L, Kauff N, Robson M, et al. Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol 2002;20:1260–1268.
Schrag D, Kuntz KM, Garber JE, et al. Life expectancy gains from cancer prevention strategies for women with breast cancer and BRCA1 or BRCA2 mutations. JAMA 2000;283:617–624.
Struewing JP, Hartge P, Wacholder S, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997;336:1401–1408.
Thompson ME, Jensen RA, Obermiller PS, et al. Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression. Nat Genet 1995;9:444–450.
Varley JM, Evans DG, Birch JM. Li-Fraumeni syndrome—a molecular and clinical review. Br J Cancer 1997;76:1–14.
Vogel VG, Costantino JP, Wickerham DL, et al. Effects of tamoxifen vs raloxifene on the risk of developing invasive breast cancer and other disease outcomes: the NSABP Study of Tamoxifen and Raloxifene (STAR) P-2 trial. JAMA 2006;295:2727–2741.
Vorechovsky I, Luo L, Lindblom A, et al. ATM mutations in cancer families. Cancer Res 1996;56:4130–4133.
Warner E, Plewes DB, Hill KA, et al. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 2004;292:1317–1325.
Warner E, Plewes DB, Shumak RS, et al. Comparison of breast magnetic resonance imaging, mammography, and ultrasound for surveillance of women at high risk for hereditary breast cancer. J Clin Oncol 2001;19:3524–3531.
Weitzel JN. Genetic cancer risk assessment. Putting it all together. Cancer 1999;86 (suppl. 11):2483–2492.
Yoshikawa K, Honda K, Inamoto T, et al. Reduction of BRCA1 protein expression in Japanese sporadic breast carcinomas and its frequent loss in BRCA1-associated cases. Clin Cancer Res 1999;5:1249–1261.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2008 Springer Science + Business Media, LLC
About this chapter
Cite this chapter
Ready, K.J., Arun, B.K. (2008). Genetic Predisposition to Breast Cancer and Genetic Counseling and Testing. In: Hunt, K.K., Robb, G.L., Strom, E.A., Ueno, N.T. (eds) Breast Cancer 2nd edition. M.D. Anderson Cancer Care Series. Springer, New York, NY. https://doi.org/10.1007/978-0-387-34952-7_3
Download citation
DOI: https://doi.org/10.1007/978-0-387-34952-7_3
Publisher Name: Springer, New York, NY
Print ISBN: 978-0-387-34950-3
Online ISBN: 978-0-387-34952-7
eBook Packages: MedicineMedicine (R0)