Variant: rs587779001 

    present in Gene: MLH1;EPM2AIP1
    present in Chromosome: 3
    Position on Chromosome: 36993521
    Alleles of this Variant: C/A;T

rs587779001 in MLH1;EPM2AIP1 gene and Hereditary Non-Polyposis Colon Cancer Type 2 PMID 16083711 2005 Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.

PMID 21840485 2011 Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR.

PMID 24084575 2014 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.

PMID 26888055 2016 Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome.

PMID 22878509 2013 Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry.

PMID 21120944 2011 Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

PMID 27435373 2016 Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

rs587779001 in MLH1;EPM2AIP1 gene and Hereditary Nonpolyposis Colorectal Neoplasms PMID 21840485 2011 Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR.

PMID 24084575 2014 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.

rs587779001 in MLH1;EPM2AIP1 gene and Neoplastic Syndromes, Hereditary PMID 29472279 2018 Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation.

PMID 22878509 2013 Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry.

PMID 21840485 2011 Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR.

PMID 24084575 2014 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.