Bridging the BRCA1/2 variant previvor gap in health care

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.