Variant: rs63749906 

    present in Gene: MLH1;EPM2AIP1
    present in Chromosome: 3
    Position on Chromosome: 36993651
    Alleles of this Variant: T/G

rs63749906 in MLH1;EPM2AIP1 gene and Hereditary Non-Polyposis Colon Cancer Type 2 PMID 8993976 1997 Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.

PMID 11839723 2002 Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.

PMID 9326924 1997 A human compound heterozygote for two MLH1 missense mutations.

PMID 10627141 1998 Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online.

PMID 20020535 2010 A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.

PMID 11781295 2002 Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.

PMID 8571956 1996 Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.

PMID 22753075 2012 Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.

PMID 15365995 2004 Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.

PMID 10375096 1999 Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.

PMID 11748856 2001 Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.

PMID 11793442 2002 Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.

PMID 10413423 1999 Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.

PMID 11726306 2001 Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?

PMID 8872463 1996 Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.

PMID 9833759 1998 Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.

PMID 8797773 1996 Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer.

PMID 9559627 1998 Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer.

PMID 10598809 1999 Missense mutations in hMLH1 associated with colorectal cancer.

PMID 9311737 1997 Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.

rs63749906 in MLH1;EPM2AIP1 gene and Hereditary Nonpolyposis Colorectal Cancer PMID 10082584 1999 Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations.

PMID 17440981 2007 Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.

PMID 16995940 2006 In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

PMID 17312306 2007 Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.

PMID 17510385 2007 Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

PMID 8521398 1995 Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families.

PMID 12810663 2003 A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.

PMID 15731775 2005 Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer.