|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
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
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
|
22753075 |
2012 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility.
|
21952876 |
2012 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
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
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.
|
19419416 |
2009 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.
|
19698169 |
2009 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
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
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
|
17510385 |
2007 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations.
|
17210669 |
2007 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
|
16995940 |
2006 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.
|
17135187 |
2006 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.
|
15713769 |
2005 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.
|
12547705 |
2003 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers.
|
12386821 |
2002 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
|
11781295 |
2002 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
|
11555625 |
2001 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
CausalMutation
|
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 Cancer
|
|
0.710 |
CausalMutation
|
CLINVAR |
Comprehensive functional assessment of MLH1 variants of unknown significance.
|
22736432 |
2012 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
CausalMutation
|
CLINVAR |
Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility.
|
21952876 |
2012 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
CausalMutation
|
CLINVAR |
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
|
21404117 |
2011 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
CausalMutation
|
CLINVAR |
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
|
20020535 |
2010 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
CausalMutation
|
CLINVAR |
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
|
20020535 |
2010 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
CausalMutation
|
CLINVAR |
A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.
|
20864636 |
2010 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
CausalMutation
|
CLINVAR |
Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.
|
19419416 |
2009 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
CausalMutation
|
CLINVAR |
Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients.
|
18618713 |
2008 |