Somatic mutation profiles of clear cell endometrial tumors revealed by whole exome and targeted gene sequencing.

ABSTRACT:

Background

The molecular pathogenesis of clear cell endometrial cancer (CCEC), a tumor type with a relatively unfavorable prognosis, is not well defined. We searched exome-wide for novel somatically mutated genes in CCEC and assessed the mutational spectrum of known and candidate driver genes in a large cohort of cases.

Methods

We conducted whole exome sequencing of paired tumor-normal DNAs from 16 cases of CCEC (12 CCECs and the CCEC components of 4 mixed histology tumors). Twenty-two genes-of-interest were Sanger-sequenced from another 47 cases of CCEC. Microsatellite instability (MSI) and microsatellite stability (MSS) were determined by genotyping 5 mononucleotide repeats.

Results

Two tumor exomes had relatively high mutational loads and MSI. The other 14 tumor ex

SUBMITTER: Le Gallo M 

PROVIDER: S-EPMC5587124 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature