|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
GeneticVariation
|
BEFREE |
We encountered a large Irish Lynch syndrome kindred that carries the c.544A>G (p.Arg182Gly) alteration in the MLH1 gene and we undertook to study the variant.
|
22773173 |
2012 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome.
|
24811117 |
2014 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
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 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.
|
22773173 |
2012 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
|
22753075 |
2012 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.
|
22773173 |
2012 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
|
21404117 |
2011 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
|
21404117 |
2011 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
|
20020535 |
2010 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.
|
19459153 |
2009 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.
|
19459153 |
2009 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
|
17510385 |
2007 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
|
16395668 |
2006 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
|
16395668 |
2006 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
|
15365995 |
2004 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.
|
11839723 |
2002 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
|
11781295 |
2002 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.
|
11793442 |
2002 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.
|
11748856 |
2001 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?
|
11726306 |
2001 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
|
10480359 |
1999 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.
|
10375096 |
1999 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.
|
10413423 |
1999 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
|
10480359 |
1999 |