BRCA1 and BRCA2 mutations in ovarian cancer.

摘要

Dr Yang and colleagues reported genomic and clinical data from The Cancer Genome Atlas (TCGA) projecton3I6serous ovarian carcinomas. We wish to point out a possible error. The authors listed BRCA2 K3326X, identified in the germline of 3 women, among the deleterious mutations, as was also reported in the first study from TCGA project.2 However, K3326X is actually a polymorphic stop in BRCA2 that is listed as a clinically benign variant on the Breast Cancer Information Core database and by the International Agency for Research on Cancer Unclassified Genetic Variants Working Group. As expected for a benign variant, all 3 paired carcinomas had retention of heterozygosity for BRCA2.