BRCA1 and BRCA2 Mutations in Ovarian Cancer

To the Editor: Dr Yang and colleagues reported genomic and clinical data from The Cancer Genome Atlas (TCGA) project on 316 serous ovarian carcinomas.¹ 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 database³ and by the International Agency for Research on Cancer Unclassified Genetic Variants Working Group.⁴ As expected for a benign variant, all 3 paired carcinomas had retention of heterozygosity for BRCA2.²