RT Journal
A1 Swisher E, Walsh T
T1 BRca1 and brca2 mutations in ovarian cancer
JF JAMA
JO JAMA
YR 2012
FD January 25
VO 307
IS 4
SP 359
OP 361
DO 10.1001/jama.2012.9
UL http://dx.doi.org/10.1001/jama.2012.9
AB 
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