American Board of Internal Medicine (ABIM) Certification Practice Exam

Who should be screened for BRCA mutations?

1. Women with breast cancer diagnosed after age 50

2. Men with prostate cancer

3. Individuals with a family history of known deleterious BRCA mutations

4. Women with a negative family history

The correct answer is: Individuals with a family history of known deleterious BRCA mutations

Individuals with a family history of known deleterious BRCA mutations should indeed be screened for these mutations. The BRCA1 and BRCA2 genes are critical for maintaining genomic stability, and mutations in these genes can significantly increase the risk of developing breast, ovarian, pancreatic, and prostate cancers. When a family member has a known BRCA mutation, this information allows for targeted screening of other at-risk relatives, who may also carry the same mutation. This proactive approach can lead to earlier surveillance, preventative measures, and informed decisions about treatment options. Genetic counseling is often recommended for individuals in such circumstances to fully understand their risks and the implications of testing. In contrast, other options do not adequately meet the criteria for screening. For example, women diagnosed with breast cancer after age 50 may not fall into the high-risk category for BRCA mutations, as the likelihood of carrying a mutation decreases with age in the absence of specific family histories. Similarly, men with prostate cancer, while potentially at increased risk for BRCA mutations, are generally not the primary candidates for routine BRCA testing unless there is a strong family history or other risk factors present. Women with a negative family history do not typically meet the criteria for genetic screening, given that their risk level