This Article Full Text Full Text (PDF) eLetters: Submit a response to this article Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services E-mail this article link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Reprints/Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Thull, D. L. Articles by Vogel, V. G. Search for Related Content PubMed PubMed Citation Articles by Thull, D. L. Articles by Vogel, V. G.

Recognition and Management of Hereditary Breast Cancer Syndromes

^a Magee/UPCI Breast Cancer Genetics Program, Magee-Women’s Hospital, Pittsburgh, Pennsylvania, USA; ^b Magee/UPCI Breast Cancer Prevention Program, Magee-Women’s Hospital, Pittsburgh, Pennsylvania, USA

Victor G. Vogel, M.D., M.H.S., Magee/UPCI Breast Cancer Prevention Program, Magee-Women’s Hospital, 300 Halket Street, Room 3524, Pittsburgh, Pennsylvania 15213, USA. Telephone: 412-641-6500; Fax: 412-641-6461; e-mail: vvogel{at}mail.magee.edu

Clinicians should recognize the genetic syndromes that predispose to the development of breast cancer so that patients may be afforded the opportunity to have genetic testing to assist them and their family members in making medical management decisions. Approximately 80%–90% of hereditary breast cancer cases are caused by mutations in the BRCA1 and BRCA2 genes. Other important clinical genetic predispositions include Cowden syndrome, Li-Fraumeni syndrome, Peutz-Jeghers syndrome, and ataxia-telangiectasia. The key to identifying women who are at risk for a hereditary breast cancer lies in obtaining an adequate, three-generation family history, including ethnic background. For unaffected women, breast cancer risks can be estimated using the quantitative models of Gail and Claus, but there are limitations to these models. Other quantitative models predict the likelihood that a patient is carrying a mutated gene. Genetic testing is available at selected laboratories for each of the hereditary syndromes described, and there are three possible outcomes to testing. These outcomes and their management implications are described in detail. Clinical management options for women at high risk for breast cancer include surveillance, chemoprevention, and prophylactic surgery. Application of these principles can reduce morbidity in women with genetic predispositions to breast cancer.

Key Words. Breast neoplasms • Genetic predisposition • Chemoprevention • Tamoxifen • Prophylactic surgery

This article has been cited by other articles:

				J. B Greer and D. C Whitcomb Role of BRCA1 and BRCA2 mutations in pancreatic cancer Gut, May 1, 2007; 56(5): 601 - 605. [Abstract] [Full Text] [PDF]

				V. G. Vogel Identifying and Screening Patients at Risk of Second Cancers Cancer Epidemiol. Biomarkers Prev., November 1, 2006; 15(11): 2027 - 2032. [Abstract] [Full Text] [PDF]

				K. S. Kendler Reflections on the Relationship Between Psychiatric Genetics and Psychiatric Nosology Am J Psychiatry, July 1, 2006; 163(7): 1138 - 1146. [Abstract] [Full Text] [PDF]

				K. P. Kaut Counseling Psychology in the Era of Genetic Testing: Considerations for Practice, Research, and Training The Counseling Psychologist, July 1, 2006; 34(4): 461 - 488. [Abstract] [PDF]

				L Wideroff, S T Vadaparampil, M H Greene, S Taplin, L Olson, and A N Freedman Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians J. Med. Genet., October 1, 2005; 42(10): 749 - 755. [Abstract] [Full Text] [PDF]

				R. Sifri, S. Gangadharappa, and L. S. Acheson Identifying and Testing for Hereditary Susceptibility to Common Cancers CA Cancer J Clin, November 1, 2004; 54(6): 309 - 326. [Abstract] [Full Text] [PDF]