Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751327
rs63751327
MSH6 ; FBXO11
TA 0.700 CausalMutation CLINVAR Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats. 21081928

2010
dbSNP: rs63751327
rs63751327
MSH6 ; FBXO11
TA 0.700 CausalMutation CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412

2010
dbSNP: rs63751327
rs63751327
MSH6 ; FBXO11
TA 0.700 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915

2009
dbSNP: rs63751327
rs63751327
MSH6 ; FBXO11
TA 0.700 CausalMutation CLINVAR Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test. 19072991

2009
dbSNP: rs63751327
rs63751327
MSH6 ; FBXO11
TA 0.700 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008
dbSNP: rs63751327
rs63751327
MSH6 ; FBXO11
TA 0.700 CausalMutation CLINVAR Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009

2007
dbSNP: rs63751327
rs63751327
MSH6 ; FBXO11
TA 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: rs63751327
rs63751327
MSH6 ; FBXO11
TA 0.700 CausalMutation CLINVAR Familial endometrial cancer in female carriers of MSH6 germline mutations. 10508506

1999