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.
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.
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