Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome. 28481244

2017

dbSNP: rs267608078
rs267608078
AC 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: rs267608078
rs267608078
A 0.700 CausalMutation CLINVAR Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome. 22734033

2012

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412

2010

dbSNP: rs267608078
rs267608078
A 0.700 CausalMutation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993

2010

dbSNP: rs267608078
rs267608078
A 0.700 CausalMutation CLINVAR MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 20487569

2010

dbSNP: rs267608078
rs267608078
A 0.700 CausalMutation CLINVAR Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. 20591884

2010

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 20487569

2010

dbSNP: rs267608078
rs267608078
A 0.700 CausalMutation CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412

2010

dbSNP: rs267608078
rs267608078
ACC 0.700 CausalMutation CLINVAR Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome. 19526325

2009

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009

2007

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability. 17117178

2006

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. 16807412

2006

dbSNP: rs267608078
rs267608078
A 0.700 CausalMutation CLINVAR Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. 15483016

2004

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. 15483016

2004

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. 15365995

2004

dbSNP: rs267608078
rs267608078
A 0.700 CausalMutation CLINVAR Familial endometrial cancer in female carriers of MSH6 germline mutations. 10508506

1999

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer. 9929971

1999

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. 9307272

1997