|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.
|
28422960 |
2017 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.
|
27606285 |
2016 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.
|
26951660 |
2016 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.
|
26951660 |
2016 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
|
27601186 |
2016 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.
|
26517685 |
2015 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
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 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
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 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Lynch Syndrome in high risk Ashkenazi Jews in Israel.
|
23990280 |
2014 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
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 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
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 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
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 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Lynch Syndrome in high risk Ashkenazi Jews in Israel.
|
23990280 |
2014 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.
|
25117503 |
2014 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
|
22949379 |
2013 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Splice site mutations in mismatch repair genes and risk of cancer in the general population.
|
23329266 |
2013 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
|
24278394 |
2013 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Proteasome inhibition rescues clinically significant unstable variants of the mismatch repair protein Msh2.
|
23248292 |
2013 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mutation spectrum in South American Lynch syndrome families.
|
24344984 |
2013 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
|
24278394 |
2013 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
|
22949387 |
2013 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer.
|
22883484 |
2013 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Cancer risk in Lynch Syndrome.
|
23604856 |
2013 |