|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer.
|
8797773 |
1996 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
|
8993976 |
1997 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
GeneticVariation
|
BEFREE |
Thus, the H329P mutation present in the germline can be considered as having an aetiological role in this HNPCC family.
|
9272156 |
1997 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue.
|
9272156 |
1997 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.
|
9311737 |
1997 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A human compound heterozygote for two MLH1 missense mutations.
|
9326924 |
1997 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
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
|
|
0.800 |
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
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.
|
10413423 |
1999 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Missense mutations in hMLH1 associated with colorectal cancer.
|
10598809 |
1999 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online.
|
10627141 |
1998 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation.
|
11598466 |
2001 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
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 |
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
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
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.
|
11793442 |
2002 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
|
15365995 |
2004 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
|
16083711 |
2005 |