关键词: 专家共识, BRCA1, BRCA2, 同源重组, 突变筛查, 二代测序, 胚系突变

Abstract:

Germline mutations in BRCA genes (including BRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based BRCA gene screening, particularly in high-risk individuals with a family history of cancer, can play a preventive role by reducing mortality and societal impact of these genetic diseases. Recent years have witnessed the increasing accessibility of BRCA germline mutation testing based on next generation sequencing technology. To further standardize the workflow for BRCA germline mutation screening in the Chinese population, a consensus development group was established by the China Anti-Cancer Association Tumor Biomarker Professional Committee and the Shanghai Anti-Cancer Association Tumor Biomarker Professional Committee. Using an evidence-based approach and building upon literature reviews, the group formulated preliminary recommendations with quality assessments and evidence synthesis regarding common concerns in the process of BRCA germline testing in the population, including screening scenarios, technical approaches, quality control, result interpretation and reporting, as well as genetic counseling. Through multidisciplinary discussions and Delphi questionnaire survey "expert consensus on population-based BRCA germline mutation screening in China (2024 edition)" was developed after summarization and revision. This consensus aims to provide evidence-based guidance and regulatory foundations for BRCA germline mutation screening in the Chinese population and lay the groundwork for further guideline development.

Key words: Expert consensus, BRCA1, BRCA2, Homologous recombination, Mutation screening, Next-generation sequencing, Germline mutation