×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
CLINVAR
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
27978560
2017
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
CLINVAR
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
28135145
2017
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
Biomarker
disease
CLINGEN
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
27329137
2016
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
CausalMutation
disease
CLINVAR
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
27601186
2016
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
CLINVAR
Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome.
26888055
2016
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
CLINVAR
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
27435373
2016
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
CausalMutation
disease
CLINVAR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
26681312
2016
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
CLINVAR
Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
26248088
2015
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
CausalMutation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
CausalMutation
disease
CLINVAR
Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
26248088
2015
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
CausalMutation
disease
CLINVAR
Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.
25892863
2015
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
CausalMutation
disease
CLINVAR
Genetic features of Lynch syndrome in the Israeli population.
25430799
2015
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
CausalMutation
disease
CLINVAR
Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.
25871621
2015
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
CausalMutation
disease
CLINVAR
Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome.
26053027
2015
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
CausalMutation
disease
CLINVAR
Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
24440087
2014
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
CausalMutation
disease
CLINVAR
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.
24802709
2014
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
CausalMutation
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
0.710
CausalMutation
disease
CLINVAR
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.
24323032
2014
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
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
0.710
GeneticVariation
disease
CLINVAR
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.
24084575
2014
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
Biomarker
disease
CTD_human
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.
25077178
2014
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
CausalMutation
disease
CLINVAR
Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.
23760103
2013
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
CLINVAR
Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry.
22878509
2013
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
CLINVAR
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
22949387
2013