HEREDITARY BREAST AND OVARIAN CANCER (HBOC) SYNDROME

Tóm tắt

Genetic factors account for approximately 5–7% of breast cancer cases and 15–20% of epithelial ovarian cancer cases. Germline mutations in genes such as BRCA1/2, PALB2, TP53, CHEK2, ATM, and RAD51C/D have been identified as contributing to varying degrees of cancer risk. Current evidence indicates that carriers of BRCA mutations have a cumulative lifetime risk of up to 60–80% for breast cancer and 15–45% for ovarian cancer. The advent of next-generation sequencing (NGS) has significantly improved mutation detection rates, while also posing challenges in the interpretation of variants of uncertain significance (VUS). In terms of treatment, large clinical trials have demonstrated the superior efficacy of PARP inhibitors in patients harboring BRCA mutations, based on the mechanism of synthetic lethality, leading to improvements in progression-free survival and other survival outcomes. In addition, genetic counseling plays a central role in risk assessment, guiding genetic testing, and supporting clinical decision-making. Risk-reducing strategies, including enhanced surveillance and prophylactic surgery, have shown clear effectiveness. However, the implementation of these approaches in developing countries remains limited and requires further improvement.