1010PFrequency of mutations in 21 hereditary breast and ovarian cancer susceptibility genes among 882 high-risk individuals

Abstract Background Multiple high- and moderate- penetrance gene (including BRCA1 and BRCA2) have been discovered as susceptibility gene for hereditary breast and ovarian cancer. Recent advances in Next-generation sequencing (NGS) have provided an efficient method to evaluate these susceptibility gene simultaneously. The prevalence and clinical prediction factors associated with the pathogenic variants (PVs) have not been well studied in Chinese population. Methods Subjects were selected from individuals referred for genetic testing using a 21-gene panel (Oseq-BRCA) between January 2015 and March 2018. The distribution and prevalence of deleterious mutations were analyzed for the full cohort as well as subtypes. Results Overall, 176 deleterious mutations were observed in 19.50% (n = 172) individuals. Of these, 26 mutations are not reported in public databases and literatures. In the ovarian cancer only subgroup, 115 deleterious mutations were identified in 429 patients (48.6%). Patients with ovarian cancer with mutations were enriched for a family history of breast or ovarian cancers (p  Conclusions Our results highlighted the genetic heterogeneity of HBOC and the efficiency of multigene panel in performing risk assessment. Clinical trial identification Our results highlighted the genetic heterogeneity of HBOC and the efficiency of multigene panel in performing risk assessment. Legal entity responsible for the study BGI Genomics. Funding BGI Genomics. Disclosure D. Shao: Full / Part-time employment: BGI genomics. S. Cheng: Full / Part-time employment: BGI genomics. F. Guo: Full / Part-time employment: BGI genomics. Y. Yuan: Full / Part-time employment: BGI genomics. K. Hu: Full / Part-time employment: BGI genomics. Z. Wang: Full / Part-time employment: BGI genomics. X. Meng: Full / Part-time employment: BGI genomics. X. Jin: Full / Part-time employment: BGI genomics. X. Yun: Full / Part-time employment: BGI genomics. X. Chai: Full / Part-time employment: BGI genomics. H. Li: Full / Part-time employment: BGI genomics. Y. Zhang: Full / Part-time employment: BGI genomics. H. Zhang: Full / Part-time employment: BGI genomics. M. Ye: Full / Part-time employment: BGI genomics. All other authors have declared no conflicts of interest.