Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 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

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome. 25648859

2015

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. 25569433

2015

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799

2015

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry. 25117503

2014

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. 22883484

2013

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. 21868491

2012

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families. 19459153

2009

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009

2007

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Dual role of LOH at MMR loci in hereditary non-polyposis colorectal cancer? 16288214

2006

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Spectrum of molecular alterations in colorectal, upper urinary tract, endocervical, and renal carcinomas arising in a patient with hereditary non-polyposis colorectal cancer. 16639607

2006

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Accuracy of the routine detection of mutation in mismatch repair genes in patients with susceptibility to hereditary upper urinary tract transitional cell carcinoma. 15963139

2005

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. 15855432

2005

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Molecular analysis of endometrial hyperplasia in HNPCC-suspicious patients may predict progression to endometrial carcinoma. 14668545

2004

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Microsatellite instability as indicator of MSH2 gene mutation in patients with upper urinary tract transitional cell carcinoma. 15235034

2004

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030

2004

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575

2003

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain. 11920650

2002

dbSNP: rs587779075
rs587779075
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 11524701

2001