The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype

MLH1 methylation screening is effective in identifying epimutation carriers

(2012) Marta Pineda et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry

(2012) Robyn L. Ward et al.   GENETICS IN MEDICINE

Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future

(2012) Lene Juel Rasmussen et al.   HUMAN MUTATION

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Dominantly Inherited Constitutional Epigenetic Silencing of MLH1 in a Cancer-Affected Family Is Linked to a Single Nucleotide Variant within the 5′UTR

(2011) Megan P. Hitchins et al.   CANCER CELL

Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort†

(2011) MP Hitchins et al.   CLINICAL GENETICS

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome

(2011) M. Morak et al.   JOURNAL OF MEDICAL GENETICS

Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome

(2010) Chau-To Kwok et al.   Familial Cancer

De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one

(2010) Ajay Goel et al.   INTERNATIONAL JOURNAL OF CANCER

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

(2008) Marjolijn J L Ligtenberg et al.   NATURE GENETICS