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Genetics and the Management of Women at High Risk for Breast Cancer

2003; AlphaMed Press; Volume: 8; Issue: 5 Linguagem: Inglês

10.1634/theoncologist.8-5-466

1549-490X

Betty A. Mincey,

Ovarian cancer diagnosis and treatment

Abstract Learning Objectives After completing this course, the reader will be able to: Identify appropriate candidates for consideration of genetic testing for mutations in BRCA1 or BRCA2. Explain the importance of appropriate patient counseling prior to proceeding with genetic testing for mutations in BRCA1 or BRCA2, including genetic counseling and education regarding interpretation and implications of test results. Discuss risk management options for BRCA mutation carriers and the available evidence regarding their effectiveness. Access and take the CME test online and receive one hour of AMA PRA category 1 credit at CME.TheOncologist.com It is estimated that 5%–10% of all breast cancers in women are associated with hereditary susceptibility due to mutations in autosomal dominant genes, such as BRCA1 and BRCA2, p53, pTEN, and STK11/LKB1. Another 15%–20% of female breast cancers occur in women with a family history but without an apparent autosomal dominant inheritance pattern, and are probably due to other genetic factors with environmental influence. Approximately 7%–10% of ovarian cancers occur in women with hereditary susceptibility, primarily secondary to mutations in BRCA1 and BRCA2, with smaller contributions from mutations in mismatch repair genes associated with the hereditary nonpolyposis colorectal cancer and other, as yet undiscovered, genes.