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 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 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 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 Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. 21376568 2011
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990 2011
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan. 27589204 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. 18178629 2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753 2013
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 Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. 26437257 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency. 28286799 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Anaplastic oligoastrocytoma in Turcot syndrome. 19495563 2009
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. 15887099 2005
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 GeneticVariation group CLINVAR Drastic genetic instability of tumors and normal tissues in Turcot syndrome. 9419979 1997
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. 26895986 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents. 26116798 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. 21356188 2011
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Practical guidance for mismatch repair-deficiency testing in endometrial cancer. 27742654 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. 20531397 2010