Variant: rs267607894 

    present in Gene: MLH1
    present in Chromosome: 3
    Position on Chromosome: 37050628
    Alleles of this Variant: T/A;C

rs267607894 in MLH1 gene and Colorectal Carcinoma PMID 10882759 2000 Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.

PMID 14504054 2003 Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.

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

PMID 9032648 1997 Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.

PMID 15184898 2004 The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer.

PMID 9611074 1998 DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer.

PMID 12132870 2001 hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.

PMID 12655564 2003 Genetic analysis of familial colorectal cancer in Israeli Arabs.

PMID 18033691 2008 Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.

PMID 9087566 1997 MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.

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

rs267607894 in MLH1 gene and Hereditary Nonpolyposis Colorectal Neoplasms PMID 22736432 2012 Comprehensive functional assessment of MLH1 variants of unknown significance.

PMID 21286667 2011 Molecular analysis of Fanconi anemia and mismatch repair genes in patients with colorectal carcinoma.

PMID 14504054 2003 Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.

PMID 20864636 2010 A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.

PMID 23403630 2013 Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.

PMID 20533529 2010 Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.

rs267607894 in MLH1 gene and Neoplastic Syndromes, Hereditary PMID 20864636 2010 A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.

PMID 17473388 2007 A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations.

PMID 16181381 2005 Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes.

PMID 20533529 2010 Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.

PMID 23403630 2013 Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.

PMID 25871621 2015 Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.

PMID 14504054 2003 Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.

PMID 23752102 2013 Adrenocortical carcinoma is a lynch syndrome-associated cancer.