rs63751466, PMS2

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours. 28805995 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation 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
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation 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
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 Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458 2015
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 CausalMutation CLINVAR Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458 2015
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. 23012243 2013
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 CausalMutation CLINVAR The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. 23012243 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. 21356188 2011
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Avoidance of pseudogene interference in the detection of 3' deletions in PMS2. 21618646 2011
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
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
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 CausalMutation CLINVAR Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. 18824584 2008
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 CausalMutation CLINVAR PMS2 mutations in childhood cancer. 16507833 2006
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR PMS2 mutations in childhood cancer. 16507833 2006
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. 15077197 2004
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 CausalMutation CLINVAR Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. 15077197 2004
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723 1999
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 CausalMutation CLINVAR A hPMS2 mutant cell line is defective in strand-specific mismatch repair. 7629132 1995
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Review of the basic principles of drug action. 2440087 1986
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
0.700 CausalMutation CLINVAR