|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |
|
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 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 |
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
|
21404117 |
2011 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome.
|
24811117 |
2014 |
|
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 |
|
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 |
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.
|
19459153 |
2009 |
|
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 |
|
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 |
|
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 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families.
|
9399661 |
1997 |
|
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 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 |
|
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 Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.
|
9833759 |
1998 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.
|
8872463 |
1996 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A human compound heterozygote for two MLH1 missense mutations.
|
9326924 |
1997 |
|
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 |
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
|
8993976 |
1997 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.
|
8571956 |
1996 |
|
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 |
Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer.
|
9559627 |
1998 |
|
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 |