|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
|
27978560 |
2017 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
|
28135145 |
2017 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
Biomarker
|
disease |
CLINGEN |
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
|
27329137 |
2016 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
|
27601186 |
2016 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome.
|
26888055 |
2016 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
|
26248088 |
2015 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
|
26248088 |
2015 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.
|
25892863 |
2015 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Genetic features of Lynch syndrome in the Israeli population.
|
25430799 |
2015 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
Biomarker
|
disease |
CTD_human |
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.
|
25077178 |
2014 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
|
22949387 |
2013 |