Colorectal carcinomas with microsatellite instability display a different pattern of target gene mutations according to large bowel site of origin.

ABSTRACT:

Background

Only a few studies have addressed the molecular pathways specifically involved in carcinogenesis of the distal colon and rectum. We aimed to identify potential differences among genetic alterations in distal colon and rectal carcinomas as compared to cancers arising elsewhere in the large bowel.

Methods

Constitutional and tumor DNA from a test series of 37 patients with rectal and 25 patients with sigmoid carcinomas, previously analyzed for microsatellite instability (MSI), was studied for BAX, IGF2R, TGFBR2, MSH3, and MSH6 microsatellite sequence alterations, BRAF and KRAS mutations, and MLH1 promoter methylation. The findings were then compared with those of an independent validation series consisting of 36 MSI-H carcinomas with origin from each of the large bow

SUBMITTER: Pinheiro M 

PROVIDER: S-EPMC2984429 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature