Not all individuals with a BRCA1 or BRCA2 gene mutation will develop cancer but their risk is significantly increased. Risks for colon cancer in men and women, as well as prostate cancer in men are also increased. This is accomplished by reviewing the personal medical history and the family history, including review of medical records. A physical exam may reveal additional findings that can contribute to the diagnosis. In conjunction with the evaluation, education and genetic counseling are provided to discuss the benefits and limitations of genetic testing, as well as the options available for early detection and cancer risk reduction.
Mutation testing is most informative when first performed in a family member with cancer.
If a BRCA1 or BRCA2 mutation has been identified in a family member with cancer, this information may help with their disease management. Those family members who do not have the mutation have not inherited a predisposition to cancer and should follow the general population recommendations for prevention. Those who do have the mutation have an increased risk for specific cancers and they may benefit from enhanced prevention strategies. If a BRCA1 or BRCA2 gene mutation is not identified, it is possible that a different cancer susceptibility gene is responsible for the cancer in the family and options for cancer prevention would be based on the genetic risk assessment. It is not always possible to test an affected family member first and an unaffected individual can have a genetic evaluation and genetic testing.