Concomitant mutation and epimutation of the MLH1 gene in a Lynch syndrome family

Epigenetic mechanisms in the pathogenesis of Lynch syndrome

(2014) P. Peltomäki   CLINICAL GENETICS

MLH1constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria

(2014) Francesca Crucianelli et al.   Epigenetics

Intragenic DNA methylation in transcriptional regulation, normal differentiation and cancer

(2013) Marta Kulis et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

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

(2013) Chau-To Kwok et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The role of epigenetics in Lynch syndrome

(2013) Megan P. Hitchins   Familial Cancer

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis and MYH-associated polyposis)

(2013) Madhuri Hegde et al.   GENETICS IN MEDICINE

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

(2013) Bryony A Thompson et al.   NATURE GENETICS

Cancer Genetics and Epigenetics: Two Sides of the Same Coin?

(2012) Jueng Soo You et al.   CANCER CELL

MLH1 methylation screening is effective in identifying epimutation carriers

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

EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients

(2012) Marjolijn J. L. Ligtenberg et al.   Familial Cancer

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

Risks of Less Common Cancers in Proven Mutation Carriers With Lynch Syndrome

(2012) Christoph Engel et al.   JOURNAL OF CLINICAL ONCOLOGY

Comprehensive molecular characterization of human colon and rectal cancer

(2012)   NATURE

Functions of DNA methylation: islands, start sites, gene bodies and beyond

(2012) Peter A. Jones   NATURE REVIEWS GENETICS

Genetic heterogeneity in HER2 testing may influence therapy eligibility

(2011) Barbara Bernasconi et al.   BREAST CANCER RESEARCH AND TREATMENT

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

Integrated analysis of unclassified variants in mismatch repair genes

(2011) Chiara Pastrello et al.   GENETICS IN MEDICINE

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility

(2011) Michel Crépin et al.   HUMAN MUTATION

Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome

(2011) Valérie Bonadona   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

Epigenetics and colorectal cancer

(2011) Victoria Valinluck Lao et al.   Nature Reviews Gastroenterology & Hepatology

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

Epigenetics in cancer

(2009) S. Sharma et al.   CARCINOGENESIS

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

(2009) HT Lynch et al.   CLINICAL GENETICS

Large genomic rearrangements and germline epimutations in Lynch syndrome

(2008) Annette Gylling et al.   INTERNATIONAL JOURNAL OF CANCER