BRCA1 and BRCA2: Cancer Risk and Genetic Testing

• BRCA1 and BRCA2 are human genes that belong to a class of genes known as tumor suppressors. Mutation of these genes has been linked to hereditary breast and ovarian cancer (see Question 1). • A woman's risk of developing breast and/or ovarian cancer is greatly increased if she inherits a deleterious (harmful) BRCA1 or BRCA2 mutation. Men with these mutations also have an increased risk of breast cancer. Both men and women who have harmful BRCA1 or BRCA2 mutations may be at increased risk of other cancers (see Question 2). • Genetic tests are available to check for BRCA1 and BRCA2 mutations. A blood sample is required for these tests, and genetic counseling is recommended before and after the tests (see Question 5). • If a harmful BRCA1 or BRCA2 mutation is found, several options are available to help a person manage their cancer risk (see Question 11). • Federal and state laws help ensure the privacy of a person’s genetic information and provide protection against discrimination in health insurance and employment practices (see Questions 14 and 15). • Many research studies are being conducted to find newer and better ways of detecting, treating, and preventing cancer in BRCA1 and BRCA2 mutation carriers. Additional studies are focused on improving genetic counseling methods and outcomes. Our knowledge in these areas is evolving rapidly (see Question 18).