×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
22753075 2012
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
21120944 2011
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
20020535 2010
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
18561205 2008
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Inheritance of a cancer-associated MLH1 germ-line epimutation.
17301300 2007
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
17510385 2007
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
16451135 2006
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
16083711 2005
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.
15139004 2004
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.
15365996 2004
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Germline epimutation of MLH1 in individuals with multiple cancers.
15064764 2004
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.
14961575 2004
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
15365995 2004
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.
14635101 2003
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.
12658575 2003
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Identification of six novel MSH2 and MLH1 germline mutations in HNPCC.
12655562 2003
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
12373605 2002
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer.
12200596 2002
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.
11793442 2002
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression.
11870161 2002
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
12362047 2002
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.
11839723 2002
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
hMLH1 and hMSH2 gene mutation in Brazilian families with suspected hereditary nonpolyposis colorectal cancer.
12095971 2002
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
11781295 2002
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer.
11754112 2002