|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
|
20020535 |
2010 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
A human compound heterozygote for two MLH1 missense mutations.
|
9326924 |
1997 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
|
18561205 |
2008 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
|
18561205 |
2008 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.
|
20864636 |
2010 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
Biomarker
|
disease |
CLINGEN |
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
|
16341550 |
2006 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
|
16341550 |
2006 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
|
18383312 |
2008 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements.
|
12183410 |
2002 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer.
|
14512394 |
2003 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
An American founder mutation in MLH1.
|
21671475 |
2012 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome.
|
22776989 |
2012 |
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
|
21642682 |
2011 |
|
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 |
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 |
Biomarker
|
disease |
CLINGEN |
Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility.
|
9490293 |
1998 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
|
8993976 |
1997 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
|
18033691 |
2008 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Classification of mismatch repair gene missense variants with PON-MMR.
|
22290698 |
2012 |