rs63750716, MSH2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944 2011
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619 2008
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205 2008
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Functional analysis of HNPCC-related missense mutations in MSH2. 18822302 2008
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135 2006
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy. 15896463 2005
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes. 15870828 2005
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.700 GeneticVariation UNIPROT Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. 15996210 2005
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.700 GeneticVariation UNIPROT Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene. 12792735 2004
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Gene symbol: hMSH2. Disease: Hereditary nonpolyposis colorectal cancer. 15046096 2004
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575 2003
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.700 GeneticVariation UNIPROT Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases. 14504054 2003
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. 12124176 2002
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2. 10573010 2000
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families. 10612836 2000
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Population-based molecular detection of hereditary nonpolyposis colorectal cancer. 10829038 2000
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Functional analysis of human MutSalpha and MutSbeta complexes in yeast. 9889267 1999
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. 10375096 1999
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
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
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. 9718327 1998
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers. 9621522 1998
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. 9419403 1997
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. 7874129 1994