The role of epigenetics in Lynch syndrome

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

Germline promoter hypermethylation of tumor suppressor genes in gastric cancer

(2012) Pu-Yuan Wu   WORLD JOURNAL OF GASTROENTEROLOGY

Lynch Syndrome-Associated Extracolonic Tumors Are Rare in Two Extended Families With the Same EPCAM Deletion

(2011) Henry T Lynch et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

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

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

(2011) Michel Crépin et al.   HUMAN MUTATION

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

Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition?

(2010) Eddy HJ van Roon et al.   BMC CANCER

Epimutations and cancer predisposition: importance and mechanisms

(2010) Luke B Hesson et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Intensity-dependent constitutional MLH1 promoter methylation leads to early onset of colorectal cancer by affecting both alleles

(2010) Jessie Auclair et al.   GENES CHROMOSOMES & 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

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

(2010) Marlies JE Kempers et al.   LANCET ONCOLOGY

Methylation of the 3p22 region encompassing MLH1 is representative of the CpG island methylator phenotype in colorectal cancer

(2010) Justin J-L Wong et al.   MODERN PATHOLOGY

Epigenetics in cancer

(2009) S. Sharma et al.   CARCINOGENESIS

Germline hypermethylation ofMLH1andEPCAMdeletions are a frequent cause of Lynch syndrome

(2009) Renée C. Niessen et al.   GENES CHROMOSOMES & CANCER

Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer

(2009) M P Hitchins et al.   JOURNAL OF MEDICAL GENETICS

Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC

(2008) Monika Morak et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Large genomic rearrangements and germline epimutations in Lynch syndrome

(2008) Annette Gylling 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

MLH1 promoter germline-methylation in selected probands of Chinese hereditary non-polyposis colorectal cancer families

(2008) Heng-Hua Zhou et al.   WORLD JOURNAL OF GASTROENTEROLOGY