Breast cancer and gene testing: risk, rationale, and responsibilities of primary care providers

Family history is one of the known risk factors for breast cancer. Breast cancer susceptibility genes, BRCA-1 and BRCA-2, have been identified as accountable for less than 10% of all cases of breast cancer. Certain populations however, including native Icelanders and Ashkenazi Jews have a higher incidence of BRCA mutations than the general population. Genetic testing for these mutations is now available. Many ethical issues remain regarding who should be tested and what interventions should be carried out with positive test results. This article describes the patient assessment and counseling process for breast cancer testing to improve the knowledge base and confidence of the primary care provider.