|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
Biomarker
|
group |
MGD |
|
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
"""Null pattern"" of immunoreactivity in a Lynch syndrome-associated colon cancer due to germline MSH2 mutation and somatic MLH1 hypermethylation."
|
22067334 |
2011 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
LHGDN |
A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred.
|
12203789 |
2002 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.
|
15235030 |
2004 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.
|
15235030 |
2004 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
|
18561205 |
2008 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
LHGDN |
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
|
18561205 |
2008 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
LHGDN |
A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1.
|
11857745 |
2002 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.
|
28445943 |
2017 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations.
|
17473388 |
2007 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
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 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
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 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
LHGDN |
A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer.
|
18406877 |
2008 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
Biomarker
|
group |
CTD_human |
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
|
22102614 |
2012 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
|
22102614 |
2012 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
|
22102614 |
2012 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
LHGDN |
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
|
16341550 |
2006 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
|
18383312 |
2008 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
|
24310308 |
2014 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome.
|
21225464 |
2011 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.
|
27398995 |
2016 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.
|
8574961 |
1996 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
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 Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
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 Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.
|
27629256 |
2017 |