Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation.

ABSTRACT:

Background

We previously reported that the target genes in sporadic mismatch repair (MMR)-deficient colorectal carcinomas (CRCs) in the distal colon differ from those occurring elsewhere in the colon. This study aimed to compare the target gene mutational pattern in microsatellite instability (MSI) CRC from Lynch syndrome patients stratified by tumour location and germline mutation, as well as with that of sporadic disease.

Methods

A series of CRC from Lynch syndrome patients was analysed for MSI in genes predicted to be selective MSI targets and known to be involved in several pathways of colorectal carcinogenesis.

Results

The most frequently mutated genes belong to the TGF-β superfamily pathway, namely ACVR2A and TGFBR2. A significantly higher frequency of target ge

SUBMITTER: Pinheiro M 

PROVIDER: S-EPMC4647680 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature