Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379

2013

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
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

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. 12732731

2003

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC. 19851887

2010

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915

2009

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome. 16283884

2005

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. 21155762

2011

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009

2007

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer. 9929971

1999

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. 21056691

2011

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR MSH6 germline mutations are rare in colorectal cancer families. 14520694

2003

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
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

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Germ-line msh6 mutations in colorectal cancer families. 10537275

1999

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
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

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden. 14961575

2004

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Mutation spectrum in HNPCC in the Israeli population. 18389388

2008

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein. 23621914

2013

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993

2010

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry. 22495361

2012

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 18625694

2008