rs63750250, PMS2

N. diseases: 9
Disease: Hereditary Nonpolyposis Colorectal Cancer ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668 2016
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
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
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents. 26116798 2015
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458 2015
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770 2015
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours. 23652311 2013
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899 2013
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours. 22120844 2012
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264 2010
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. 15887099 2005
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR