rs63750695, PMS2

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
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
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
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
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 CausalMutation CLINVAR Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome. 22081473 2012
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 CausalMutation CLINVAR ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. 22658618 2012
Hereditary Nonpolyposis Colorectal Neoplasms
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
Hereditary Nonpolyposis Colorectal Cancer
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
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
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). 16472587 2006
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 15872200 2005
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 15872200 2005
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 15872200 2005
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. 15256438 2004
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. 15256438 2004
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.700 CausalMutation CLINVAR
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR