American Board of Internal Medicine (ABIM) Certification Practice Exam

What qualifies a patient for genetic testing for BRCA gene mutations?

1. Being male with breast cancer

2. Having a family history of diabetes

3. Multiple family members with breast cancer

4. A personal history of skin cancer

The correct answer is: Multiple family members with breast cancer

The correct choice is based on the established criteria for genetic testing of BRCA gene mutations. Individuals who have multiple family members diagnosed with breast cancer—especially if that breast cancer occurred in relatives at a young age or involves male relatives—are considered at increased risk for hereditary breast and ovarian cancer syndrome (HBOC). This situation often prompts healthcare providers to recommend genetic testing. Family history of breast cancer is a critical factor because BRCA1 and BRCA2 are hereditary genes, and their mutations can significantly increase the risk of developing breast and ovarian cancer. The presence of multiple cases in the family increases the likelihood that the cancer is hereditary rather than sporadic, making genetic testing a valuable tool in risk assessment and management. In contrast, a family history of diabetes does not correlate with an increased risk for BRCA mutations, as diabetes does not have a direct link to breast or ovarian cancer genetics. While breast cancer in males is significant and could indicate a BRCA mutation, it alone (without a family history of breast cancer or ovarian cancer) may not meet the criteria for testing. Additionally, having a personal history of skin cancer does not impact the recommendations for BRCA genetic testing, as skin cancer types (like melanoma) do not share a direct genetic relationship