American Board of Internal Medicine (ABIM) Certification Practice Exam

What demographics are associated with increased BRCA mutation risks?

1. Asian heritage

2. African American background

3. Native American heritage

4. Ashkenazi Jewish heritage

The correct answer is: Ashkenazi Jewish heritage

The association between BRCA mutations and Ashkenazi Jewish heritage is well established in medical literature. Individuals of Ashkenazi Jewish descent have a higher prevalence of certain BRCA1 and BRCA2 mutations compared to the general population. Studies show that approximately 1 in 40 individuals of Ashkenazi Jewish ancestry carries a BRCA mutation, which is significantly higher than the 1 in 400 risk observed in the broader population. This increased frequency stems from a combination of founder effects and genetic drift, as the Ashkenazi Jewish population experienced a population bottleneck several centuries ago, leading to a higher propagation of specific genetic variants. Knowledge of this demographic risk is crucial for guiding genetic testing and risk assessment for breast, ovarian, and other cancers associated with BRCA mutations. In contrast, while demographics like Asian, African American, or Native American backgrounds do have cancer risks associated with inherited syndromes, they do not share the same elevated prevalence of BRCA mutations that is characteristic of the Ashkenazi Jewish population. This information is key for healthcare providers in identifying individuals who may benefit from genetic counseling and testing.