×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
BEFREE
Both Lynch Syndrome and Muir-Torre Syndrome have been recognized due to germline mutations in mismatch repair genes MLH1 , MSH2 and MSH6.
26143115
2016
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GermlineCausalMutation
disease
ORPHANET
Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm.
25006859
2014
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GermlineCausalMutation
disease
ORPHANET
Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1 -related Muir-Torre syndrome .
25197397
2014
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
Biomarker
disease
BEFREE
Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1 -related Muir-Torre syndrome .
25197397
2014
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
CLINVAR
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
24362816
2014
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
Biomarker
disease
GENOMICS_ENGLAND
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
24362816
2014
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
BEFREE
Most examples of hereditary non-polyposis cancer syndrome (Lynch syndrome), including the Muir-Torre syndrome , are associated with microsatellite instability (MSI) and germline mutations in mismatch repair genes-most commonly MLH1 or MSH2.
23672746
2013
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
CLINVAR
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
23403630
2013
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
CLINVAR
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
22949387
2013
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
CLINVAR
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
22753075
2012
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
BEFREE
Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis caused by mutations in the DNA mismatch repair genes MLH1 and MSH2.
21550136
2011
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
CLINVAR
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
21404117
2011
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
CLINVAR
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
21120944
2011
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
CLINVAR
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
20533529
2010
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
BEFREE
Muir-Torre syndrome is usually inherited in an autosomal dominant fashion and associated with mutations in the mismatch repair genes, predominantly in MLH1 and MSH2 genes.
19998059
2010
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
BEFREE
Muir-Torre Syndrome (MTS) is a phenotypic variant of HNPCC traditionally associated with mutations in the mismatch repair genes MLH1 and MSH2.
18236172
2008
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
BEFREE
Four (44%) of nine families with MLH1 mutations had a member with Muir-Torre syndrome compared with 10 (42%) of 24 families with MSH2 mutations (P = .302).
18270343
2008
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
BEFREE
Evidence indicating microsatellite stability in three of 17 patients with a clinical history indicative of Muir-Torre syndrome and a mutation in only MSH-6 suggests that the phenotype of a germline MSH-6 mutation differs from that of MLH-1 and MSH-2 mutations and further supports the use of immunohistochemistry as a screening tool in patients with Muir-Torre syndrome with an extended panel that includes MSH-6.
18065960
2008
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
CLINVAR
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
17594722
2007
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
BEFREE
Mutations reported to cause Muir-Torre syndrome (MTS) have previously been reported in the mismatch repair genes MLH1 and MSH2 and more recently, in MYH [1].
17323113
2007
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
CLINVAR
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
17510385
2007
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
BEFREE
Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas.
16826164
2006
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GeneticVariation
disease
CLINVAR
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
16083711
2005
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
GermlineCausalMutation
disease
ORPHANET
A genotype-phenotype correlation in HNPCC : strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome .
15235030
2004
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.800
Biomarker
disease
BEFREE
Microsatellite instability and immunostaining for MSH-2 and MLH-1 in cutaneous and internal tumors from patients with the Muir-Torre syndrome .
12139636
2002