Putting Prevention into Practice
An Evidence-Based Approach
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer
Am Fam Physician. 2020 Feb 15;101(4):239-240.
Author disclosure: No relevant financial affiliations.
A 31-year-old woman presents to your office for a well-woman examination. She is sexually active in a monogamous relationship and has never been pregnant. She tells you that her mother was diagnosed with tubal cancer at age 40 and that her sister, who is 42 years of age, was recently diagnosed with breast cancer. On further questioning, she reveals that her maternal aunt was diagnosed with breast cancer at 45 years of age. Physical examination shows no abnormal breast masses or lumps.
Case Study Questions
1. Based on the U.S. Preventive Services Task Force (USPSTF) recommendation statement, which one of the following is the most appropriate next step for this patient?
A. Refer her to a geneticist for genetic testing.
B. Assess her risk for a potentially harmful BRCA1/2 mutation using an appropriate brief familial risk assessment tool.
C. Refer her for breast cancer screening using mammography, breast ultrasonography, or both.
D. Recommend monthly breast self-examinations.
E. Recommend yearly clinical breast examinations.
2. According to the USPSTF recommendation, which of the following risk assessment instruments accurately estimate the likelihood of carrying a harmful BRCA1/2 mutation?
A. Ontario Family History Assessment Tool.
B. 7-Question Family History Screening Tool.
C. International Breast Cancer Intervention Study instrument (Tyrer-Cuzick).
D. National Cancer Institute Breast Cancer Risk Assessment Tool (Gail Model).
3. You determine that the patient has an elevated risk of a potentially harmful BRCA1/2 mutation. According to the USPSTF, which one of the following is the most appropriate next step?
A. Order genetic testing to screen for a BRCA1/2 mutation.
B. Order genetic testing for the patient’s mother to screen for a BRCA1/2 mutation.
C. Provide or refer the patient to genetic counseling and, if indicated, genetic testing.
D. Offer to prescribe medications to reduce the patient’s risk of breast cancer.
E. Refer the patient for twice-yearly mammography s
1. Owens DK, Davidson KW, Krist AH, et al. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force recommendation statement [published correction appears in JAMA. 2019;322(18):1830]. JAMA. 2019;322(7):652–665.
2. Nelson HD, Pappas M, Cantor A, et al. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: updated evidence report and systematic review for the US Preventive Services Task Force. JAMA. 2019;322(7):666–685.
This PPIP quiz is based on the recommendations of the USPSTF. More information is available in the USPSTF Recommendation Statement and supporting documents on the USPSTF website (https://www.uspreventiveservicestaskforce.org). The practice recommendations in this activity are available at https://www.uspreventiveservicestaskforce.org/Page/Document/UpdateSummaryFinal/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing1.
This series is coordinated by Kenny Lin, MD, MPH, deputy editor.
A collection of Putting Prevention into Practice published in AFP is available at https://www.aafp.org/afp/ppip.
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