Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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
|
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 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. | 24323032 | 2014 | |||||
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 | Population-based molecular screening for Lynch syndrome: implications for personalized medicine. | 23733757 | 2013 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations. | 21204794 | 2011 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. | 21376568 | 2011 | |||||
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 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease. | 20682701 | 2010 | |||||
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
|
0.700 | CausalMutation | CLINVAR | A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. | 18178629 | 2008 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. | 17312306 | 2007 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Long-range PCR facilitates the identification of PMS2-specific mutations. | 16619239 | 2006 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer. | 16817031 | 2006 |