Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.

ABSTRACT:

Background

Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala) variant of the MLH1 gene are conflicting. In this study, we provide new evidence indicating that this variant has no significant implications for LS.

Methods

The following approach was used to assess the clinical significance of the p.Lys618Ala variant: frequency in a control population, case-control comparison, co-occurrence of the p.Lys618Ala variant with a pathogenic mutation, co-segregation with the disease and microsatellite instability in tumours from carriers of t

SUBMITTER: Castillejo A 

PROVIDER: S-EPMC3034663 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature