Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.
|
29790873 |
2018 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
|
28135145 |
2017 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
CausalMutation
|
group |
CLINVAR |
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
|
28874130 |
2017 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
|
28514183 |
2017 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
|
27978560 |
2017 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.
|
28449805 |
2017 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
|
27064304 |
2016 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
CausalMutation
|
group |
CLINVAR |
[Founder mutation in Lynch syndrome].
|
27295708 |
2016 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
GeneticVariation
|
group |
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 Nonpolyposis Colorectal Neoplasms
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
|
27601186 |
2016 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
|
26895986 |
2016 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
|
27601186 |
2016 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
CausalMutation
|
group |
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 Nonpolyposis Colorectal Neoplasms
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.
|
24302565 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.
|
25477341 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.
|
25060679 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.
|
26300997 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
|
25559809 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
|
26248088 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
Biomarker
|
group |
CTD_human |
Microsatellite instability: an update.
|
25701956 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
|
26437257 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
|
26248088 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.
|
25477341 |
2015 |