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January 25, 2012

BRCA1 and BRCA2 Mutations in Ovarian Cancer

Author Affiliations

Author Affiliations: Departments of Obstetrics and Gynecology (Dr Swisher) (swishere@u.washington.edu) and Medicine (Dr Walsh), University of Washington, Seattle.

JAMA. 2012;307(4):359-361. doi:10.1001/jama.2012.9

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