遗传性乳腺癌与卵巢癌：基因特异性风险及遗传学照护实施挑战

原文

Breast and ovarian cancers are major public health challenges, with rising breast cancer incidence and persistently high ovarian cancer mortality. Approximately 10% of breast cancers and up to 25% of ovarian cancers are attributable to germline pathogenic variants (also called mutations) in cancer susceptibility genes, most notably BRCA1 / 2, but several other genes also contribute to risk of ovarian and breast cancers. Identification of pathogenic variants enables targeted prevention and early detection strategies, including enhanced surveillance and risk-reducing surgery, which can significantly decrease cancer incidence, morbidity, and mortality. We seek to review the specific risks of breast and ovarian cancer-associated genes and management strategies. Advances in sequencing technology, reduced sequencing costs, and legislative protections against genetic discrimination have expanded access to genetic testing, and clinical guidelines have broadened the pool of individuals recommended for testing. Despite these advances, most individuals with hereditary cancer syndromes remain undiagnosed, limiting the reach of precision cancer prevention. Underutilization of genetic testing is particularly pronounced among underserved populations, perpetuating disparities in health outcomes. Emerging health care delivery models have improved uptake and reduced barriers and can be considered for integration into obstetrics and gynecology practices. Ongoing research into the fallopian tube origin of high-grade serous ovarian cancer has prompted research that may expand risk-reducing surgical options. Collectively, these innovations mark a transformative era in hereditary cancer care, emphasizing access, multidisciplinary integration, and the urgent need for novel delivery models to ensure that the benefits of genetic testing reach all individuals at risk.