Disease: Hereditary Nonpolyposis Colorectal Cancer ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608150
rs267608150
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		CTTCACACACA 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs267608150
rs267608150
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		CTTCACACACA 0.700 CausalMutation CLINVAR Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373 2016
dbSNP: rs267608150
rs267608150
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		CTTCACACACA 0.700 CausalMutation 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
dbSNP: rs267608150
rs267608150
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		CTTCACACACA 0.700 CausalMutation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899 2013
dbSNP: rs267608150
rs267608150
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		CTTCACACACA 0.700 CausalMutation CLINVAR Population-based molecular screening for Lynch syndrome: implications for personalized medicine. 23733757 2013
dbSNP: rs267608150
rs267608150
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		CTTCACACACA 0.700 CausalMutation CLINVAR Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations. 21204794 2011
dbSNP: rs267608150
rs267608150
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		CTTCACACACA 0.700 CausalMutation CLINVAR Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. 21376568 2011
dbSNP: rs267608150
rs267608150
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		CTTCACACACA 0.700 CausalMutation CLINVAR Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients. 20186688 2010
dbSNP: rs267608150
rs267608150
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		CTTCACACACA 0.700 CausalMutation CLINVAR The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease. 20682701 2010
dbSNP: rs267608150
rs267608150
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		CTTCACACACA 0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
dbSNP: rs267608150
rs267608150
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		CTTCACACACA 0.700 CausalMutation CLINVAR A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. 18178629 2008
dbSNP: rs267608150
rs267608150
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		CTTCACACACA 0.700 CausalMutation CLINVAR Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 17312306 2007
dbSNP: rs267608150
rs267608150
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		CTTCACACACA 0.700 CausalMutation CLINVAR Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239 2006
dbSNP: rs267608150
rs267608150
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		CTTCACACACA 0.700 CausalMutation CLINVAR The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer. 16817031 2006