Gene: PMS2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289 2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289 2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. 16116158 2005
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency. 22608206 2012
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. 16144131 2005
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts. 27273229 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. 24323032 2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Transformation of MutL by ATP binding and hydrolysis: a switch in DNA mismatch repair. 10199405 1999
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry. 24790682 2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR The molecular basis of Turcot's syndrome. 7661930 1995
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR The mismatch repair gene hPMS2 is mutated in primary breast cancer. 17016615 2006
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group BEFREE The Lynch syndrome (LS) is an inherited cancer syndrome showing a preponderance of colorectal cancer (CRC) in context with endometrial cancer and several other extracolonic cancers, which is due to pathogenic mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2. 21769135 2011
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR The hPMS2 exon 5 mutation and malignant glioma. Case report. 10223463 1999
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. 20531397 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. 23012243 2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189 2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site. 23435383 2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome. 26249686 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase. 11574484 2001
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. 26247049 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. 26247049 2015