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Breast cancer genetics — ABIM Board MCQ

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HardHematology/OncologyBreast cancer geneticsABIM Board

A 38-year-old unaffected woman reports that her mother had ovarian cancer at 52 and her sister developed breast cancer at 43. No relative has undergone genetic testing. What is the appropriate next step?

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Correct answer: E — Apply familial risk assessment, then refer for genetic counseling

The best answer is “Apply familial risk assessment, then refer for genetic counseling”. This family history is associated with increased likelihood of a harmful BRCA1/2 variant. Primary care assessment with a validated familial tool should lead to genetic counseling and appropriately selected testing, ideally beginning with an affected relative when feasible. CA-125 is not a hereditary-risk screen, inheritance can be maternal or paternal, and waiting forfeits prevention.

Reference: USPSTF BRCA-related Cancer Risk Assessment Recommendation: https://www.uspreventiveservicestaskforce.org/uspstf/document/RecommendationStatementFinal/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing