Primary constitutional MLH1 epimutations: a focal epigenetic event.

ABSTRACT:

Background

Constitutional MLH1 epimutations are characterised by monoallelic methylation of the MLH1 promoter throughout normal tissues, accompanied by allele-specific silencing. The mechanism underlying primary MLH1 epimutations is currently unknown. The aim of this study was to perform an in-depth characterisation of constitutional MLH1 epimutations targeting the aberrantly methylated region around MLH1 and other genomic loci.

Methods

Twelve MLH1 epimutation carriers, 61 Lynch syndrome patients, and 41 healthy controls, were analysed by Infinium 450 K array. Targeted molecular techniques were used to characterise the MLH1 epimutation carriers and their inheritance pattern.

Results

No nucleotide or structural variants were identified in-cis on the epimutated allele i

SUBMITTER: Damaso E 

PROVIDER: S-EPMC6203851 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature