The FOXA2 transcription factor is frequently somatically mutated in uterine carcinosarcomas and carcinomas.

ABSTRACT:

Background

Uterine carcinosarcomas (UCSs) are a rare but clinically aggressive form of cancer. They are biphasic tumors consisting of both epithelial and sarcomatous components. The majority of uterine carcinosarcomas are clonal, with the carcinomatous cells undergoing metaplasia to give rise to the sarcomatous component. The objective of the current study was to identify novel somatically mutated genes in UCSs.

Methods

We whole exome sequenced paired tumor and nontumor DNAs from 14 UCSs and orthogonally validated 464 somatic variants using Sanger sequencing. Fifteen genes that were somatically mutated in at least 2 tumor exomes were Sanger sequenced in another 39 primary UCSs.

Results

Overall, among 53 UCSs in the current study, the most frequently mutated of these 1

SUBMITTER: Le Gallo M 

PROVIDER: S-EPMC5735010 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature