Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR Thyroid cancer in a patient with Lynch syndrome - case report and literature review. 28769567 2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group LHGDN Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. 16341550 2006
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR Somatic hypermethylation of MSH2 is a frequent event in Lynch Syndrome colorectal cancers. 20388775 2010
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group LHGDN Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques. 12938096 2003
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR Mechanisms of pathogenicity in human MSH2 missense mutants. 18951462 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group LHGDN [Comparison of clinical and genetic phenotypes between Chinese and Korean hereditary nonpolyposis colorectal cancer families]. 18543228 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group LHGDN BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes. 15782118 2005
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR Cancer risk in 348 French MSH2 or MLH1 gene carriers. 12624141 2003
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group LHGDN Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene. 11782355 2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. 12362047 2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group LHGDN Clinicopathological and molecular genetic analysis of HNPCC in China. 15786548 2005
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. 15342696 2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR Semiquantitative assessment of immunohistochemistry for mismatch repair proteins in Lynch syndrome. 20459533 2010
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group LHGDN Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families. 16810763 2006
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. 17101317 2006
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 17594722 2007
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR Immunosuppression. Binding by design. 1710317 1991
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group LHGDN A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group LHGDN A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred. 12203789 2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809 2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group LHGDN A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1. 11857745 2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412 2010
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR Two germline alterations in mismatch repair genes found in a HNPCC patient with poor family history. 17189986 2006
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justified. 16175654 2005