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 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 GeneticVariation group CLINVAR Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency. 23629955 2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance. 20624957 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis? 28503822 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients. 20186688 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. 27694994 2016
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 Genetic features of Lynch syndrome in the Israeli population. 25430799 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1. 22848017 2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations. 21204794 2011
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. 28466842 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation 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: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts. 19039682 2009
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. 9488480 1998
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I. 26391938 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 20487569 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Cancer genetic testing panels for inherited cancer susceptibility: the clinical experience of a large adult genetics practice. 25117502 2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? 18709565 2008