Bridging the BRCA1/2 variant previvor gap in health care
1Stacie Gopal is medical director of and an adjunct professor in the PA program at Nova Southeastern University in Jacksonville, FL, and is an adjunct faculty member in the Doctor of Medical Science program at Arkansas Colleges of Health Education in Fort Smith, AR. The author has disclosed no potential conflicts of interest, financial or otherwise.
Abstract:
Previvors, defined as those who learn that they carry a germline pathogenic or likely pathogenic (P/LP) variant that increases their risk of cancer in the absence of a cancer diagnosis, are a unique yet growing patient population. Identification of a genetic predisposition to cancer and implementation of subsequent risk-reduction strategies are increasingly common aspects of clinical practice, and the era of direct-to-consumer genetic testing expands the relevance of these issues. Comprehensive care for these patients requires a multidisciplinary approach that addresses both immediate risk-management decisions and lifelong follow-up. Essential components of care include counseling on risk-reduction options, the safety and benefits of estrogen-only hormone replacement therapy, lifestyle modification strategies, and targeted nutrition guidance. Although the term previvor encompasses individuals with a variety of hereditary cancer predisposition syndromes, this article focuses on previvors with P/LP variants in BRCA1 or BRCA2 and aims to raise awareness of the far-reaching impact of this diagnosis on female previvors.
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