|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
|
18561205 |
2008 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy.
|
15896463 |
2005 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
|
25394175 |
2015 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
|
22102614 |
2012 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
|
18383312 |
2008 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
|
25645574 |
2015 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
|
24310308 |
2014 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
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 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.
|
10573010 |
2000 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair.
|
14500346 |
2003 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.
|
15342696 |
2004 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.
|
15342696 |
2004 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India.
|
25420488 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India.
|
25420488 |
2015 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families.
|
10612836 |
2000 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional analysis of HNPCC-related missense mutations in MSH2.
|
18822302 |
2008 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional analysis of human MutSalpha and MutSbeta complexes in yeast.
|
9889267 |
1999 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gene symbol: hMSH2. Disease: Hereditary nonpolyposis colorectal cancer.
|
15046096 |
2004 |