Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.

ABSTRACT: Lynch syndrome is a hereditary cancer syndrome caused by a constitutional mutation in one of the mismatch repair genes. The implementation of predictive testing and targeted preventative surveillance is hindered by the frequent finding of sequence variants of uncertain significance in these genes. We aimed to determine the pathogenicity of previously reported variants (c.-28A>G and c.-7C>T) within the MLH1 5'untranslated region (UTR) in two individuals from unrelated suspected Lynch syndrome families. We investigated whether these variants were associated with other pathogenic alterations using targeted high-throughput sequencing of the MLH1 locus. We also determined their relationship to gene expression and epigenetic alterations at the promoter. Sequencing revealed that the c.-28A>G and

SUBMITTER: Hesson LB 

PROVIDER: S-EPMC4682451 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature