Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608094
rs267608094
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: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770

2015

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study. 26552419

2015

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome. 22081473

2012

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Comprehensive molecular characterization of human colon and rectal cancer. 22810696

2012

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. 21056691

2011

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412

2010

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. 16418736

2006

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer. 16034045

2005