rs63750250, PMS2

N. diseases: 9
Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770 2015
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458 2015
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: 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 Neoplasms
CUI: C0009405
Disease: 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
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899 2013
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264 2010
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. 15887099 2005