Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

ABSTRACT:

Background & aims

Patients with Lynch syndrome carry germline mutations in single alleles of genes encoding the mismatch repair (MMR) proteins MLH1, MSH2, MSH6, and PMS2; when the second allele becomes mutated, cancer can develop. Increased screening for Lynch syndrome has identified patients with tumors that have deficiency in MMR, but no germline mutations in genes encoding MMR proteins. We investigated whether tumors with deficient MMR had acquired somatic mutations in patients without germline mutations in MMR genes using next-generation sequencing.

Methods

We analyzed blood and tumor samples from 32 patients with colorectal or endometrial cancer who participated in Lynch syndrome screening studies in Ohio and were found to have tumors with MMR deficiency (based on micro

SUBMITTER: Haraldsdottir S 

PROVIDER: S-EPMC4294551 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature