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Managing a woman with BRCA mutations? Shared decision-making is key

The Journal of Family Practice. 2020 June;69(5):237-243 | 10.12788/jfp.0003
June 8, 2020|Family Medicine
Sarina Schrager, MD, MS;Emily Torell, MD;Kate Ledford, DO, MPH;Mae Elezaby, MD;Lisa Barroleit, MD;Elizabeth Sadowski, MD
Author and Disclosure Information

University of Wisconsin Department of Family Medicine and Community Health, Madison (Dr. Schrager); Indian Health Board, Minneapolis, MN (Dr. Torell); Group Health of Wisconsin, Madison (Dr. Ledford); University of Wisconsin Department of Radiology, Madison (Drs. Elezaby and Sadowski); University of Wisconsin Department of Obstetrics and Gynecology, Madison (Dr. Barroleit)
sbschrag@wisc.edu

The authors reported no potential conflict of interest relevant to this article.

A collaborative assessment of options and trade-offs—perhaps using visual decision aids—can help.

PRACTICE RECOMMENDATIONS

› Recommend genetic screening for the BRCA mutation if a patient’s family history includes a breast cancer diagnosis before age 50, occurrences of both breast and ovarian cancers, or other suggestive features. C

› Advise women with the BRCA gene to return for a clinical breast exam every 6 to 12 months starting at age 25, and to start radiologic screening at age 30. C

› Consider recommending bilateral salpingo-oophorectomy to prevent ovarian cancer in women 35 to 40 years of age with a BRCA1 mutation who have completed childbearing. C

Strength of recommendation (SOR)

A Good-quality patient-oriented evidence
B Inconsistent or limited-quality patient-oriented evidence
C Consensus, usual practice, opinion, disease-oriented evidence, case series

Certain populations carry undue burden of BRCA-related disease due to specific founder mutations. While the estimated global prevalence of BRCA mutations is 0.2% to 1%, for those of Ashkenazi Jewish descent the range is 2% to 3%, representing a relative risk up to 15 times that of the general population.9 Hispanic Americans also appear to have higher rates of BRCA-related cancers.10 Ongoing genetics research continues to identify founder mutations worldwide,10 which may inform future screening guidelines.

In addition to BRCA mutations, there are other, less common mutations (TABLE 15) known to cause hereditary breast and ovarian cancer.

Genes associated with breast cancer

Identifying BRCA genes enables treatment planning. Compared with sporadic cancers, BRCA-related breast cancers are diagnosed at earlier ages,11are more likely to have lymph node involvement at time of discovery,12are more likely to be triple negative (no expression of estrogen, progesterone, or HER2 receptors),11,12 and are associated with worse overall and breast cancer–specific survival.13

Similarly, BRCA-related ovarian cancer is more likely to be high-grade and endometrioid or serous subtype.14Knowledge of BRCA carrier status allows for risk-reducing strategies that are effective in reducing the incidence of cancer and improving cancer-­specific survival.15,16As such, it is crucial that the primary care provider understand guidelines to help identify this high-risk population and work with patients on risk-reducing strategies.

Shared decision-making helps give clarity to the way forward

Shared decision-making is a process of communication whereby the clinician and the patient identify a decision to be made, review data relevant to clinical options, discuss patient perspectives and preferences regarding each option, and arrive at the decision together.17 Shared decision-making is important when treating women with BRCA mutations because there is no single correct plan. Individual values and competing medical issues may strongly guide each woman’s decisions about screening and cancer prevention treatment decisions.

Continue to: Shared decision-making in this situation...

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