Breast cancer genetics and risk assessment 101: What women's health care providers need to know

Breast cancer affects the lives of many women and their loved ones. Women's health practitioners have an important role in identifying women at increased risk for breast cancer and guiding them toward appropriate counseling, imaging surveillance, and preventive care. Familial cancer syndromes account for a substantial proportion of breast cancer diagnoses. When family history or other clinical features suggest a hereditary predisposition, practitioners should consider recommending genetic testing and genetic counseling to help mitigate risk. The U.S. National Comprehensive Cancer Network offers evidence-based guidelines for identifying candidates for genetic testing and provides tools for surveillance and screening. Genetic counselors can help patients select appropriate tests and interpret results, facilitating informed decision-making. Additional risk factors for breast cancer include increasing age, lifestyle factors, prolonged exposure to endogenous or exogenous hormones, prior radiotherapy, high breast-tissue density, and a personal history of high-risk breast lesions such as atypical hyperplasia and lobular carcinoma in situ. Several validated risk-assessment tools for breast cancer are available for clinical use and incorporate patient-specific data to guide management. For individuals at increased risk of developing breast cancer, preventive and risk-reducing strategies include early-detection enhanced surveillance protocols, risk-reducing surgery, pharmacologic interventions, and lifestyle modifications.