Frequency of BRCA1 and BRCA2 germline mutations in uterine serous carcinomas and uterine carcinosarcomas.

e13521Background: Germline mutations in BRCA1 or BRCA2 may increase the risk of developing uterine serous carcinoma (USC). The Cancer Genome Atlas (TCGA) identified BRCA2 mutations in uterine carcinosarcomas (UCS). Published reports suggest that serous or serous-like endometrial cancers are associated with the hereditary breast and ovarian cancer (HBOC) syndrome. The purpose of our study was to determine the frequency of BRCA1 and BRCA2 germline mutations in a series of USC and UCS. Methods: We conducted a retrospective review at a single institution to identify patients with histologically confirmed USC or UCS. DNA was extracted from formalin-fixed, paraffin-embedded tissue blocks using standard laboratory methods. Targeted libraries were prepared for BRCA1 and BRCA2 using the Illumina TruSeq Custom Amplicon v2.0 protocol and sequenced on an Illumina MiniSeq system. The mean coverage for targeted regions was 3187X, with a minimum depth of 636X. Cases were anonymized prior to variant calling. Results: Tar...