Recognition and Management of Hereditary Breast Cancer Syndromes

Abstract

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 impor- tant clinical genetic predispositions include Cowden syn- drome, 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, ETIOLOGY Breast cancer is a common disease affecting 1 in 8 women in the U.S. [1]. Even though most cases of breast can- cer do not result from a hereditary genetic predisposition, breast cancer risks can be estimated using the quantita- tive models of Gail and Claus, but there are limitations to these models. Other quantitative models predict the like- lihood 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 pos- sible outcomes to testing. These outcomes and their man- agement implications are described in detail. Clinical management options for women at high risk for breast cancer include surveillance, chemoprevention, and pro- phylactic surgery. Application of these principles can reduce morbidity in women with genetic predispositions to breast cancer. The Oncologist 2004;9:13-24