rs63750250, PMS2

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668 2016
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency. 27017610 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome. 27037742 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770 2015
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189 2014
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 CausalMutation 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
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 Neoplasms
0.700 CausalMutation CLINVAR The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. 23012243 2013
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899 2013
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899 2013
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
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 CausalMutation CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264 2010
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264 2010
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264 2010
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008