American Board of Internal Medicine (ABIM) Certification Practice Exam

What genetic mutation is specifically mentioned as a consideration for breast cancer screening in women?

1. TP53

2. BRCA1/2

3. MLH1

4. MYH

The correct answer is: BRCA1/2

The BRCA1 and BRCA2 gene mutations are specifically associated with hereditary breast and ovarian cancer syndrome. Women who carry mutations in these genes have a significantly increased risk of developing breast cancer, often diagnosed at a younger age, as well as a higher likelihood of ovarian cancer. The presence of BRCA1 or BRCA2 mutations is a critical factor in guiding clinical decisions regarding breast cancer screening: it often leads to recommendations for earlier and more frequent screenings, such as mammograms and MRI, as well as consideration of preventive surgeries and increased attention to family history. In the context of breast cancer screening, identifying a mutation in BRCA1 or BRCA2 allows for tailored risk management strategies, enhancing the ability to detect cancer early when it is most treatable. Other genetic mutations mentioned, such as TP53 and MLH1, are associated with different cancer syndromes and may have relevance in other contexts, but they are not specifically indicated for breast cancer screening the way BRCA mutations are.