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Abdominal aortic aneurysm screening — USMLE Step 2 CK MCQ

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HardPreventive Medicine & BiostatisticsAbdominal aortic aneurysm screeningUSMLE Step 2 CK

A healthy 37-year-old woman requests hereditary cancer testing. Her mother, who is alive and willing to participate, had triple-negative breast cancer at age 42; a maternal aunt had ovarian cancer at age 51. No relative has undergone genetic testing. What is the best next step?

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Correct answer: CRefer for genetic counseling and test the affected mother first if possible

The pattern of early triple-negative breast cancer and ovarian cancer warrants a validated familial-risk assessment and referral for genetic counseling. When possible, testing begins with a relative who has had a BRCA-related cancer because identifying a pathogenic familial variant makes interpretation in unaffected relatives much more informative. Direct-to-consumer limited panels can miss clinically relevant variants and do not replace counseling. The Gail model estimates general breast-cancer risk and is not designed to identify BRCA-associated families. Pelvic ultrasound is not an effective substitute for hereditary assessment, and waiting for disease forfeits the preventive purpose of testing.

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