Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608092
rs267608092
MSH6 ; FBXO11
C 0.700 CausalMutation CLINVAR Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers. 26648449

2016
dbSNP: rs267608092
rs267608092
MSH6 ; FBXO11
C 0.700 CausalMutation CLINVAR Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer. 23541221

2013
dbSNP: rs267608092
rs267608092
MSH6 ; FBXO11
CT 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011
dbSNP: rs267608092
rs267608092
MSH6 ; FBXO11
C 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: rs267608092
rs267608092
MSH6 ; FBXO11
C 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: rs267608092
rs267608092
MSH6 ; FBXO11
C 0.700 CausalMutation CLINVAR The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer. 16360201

2006
dbSNP: rs267608092
rs267608092
MSH6 ; FBXO11
C 0.700 CausalMutation CLINVAR Ovarian cancer of endometrioid type as part of the MSH6gene mutation phenotype. 12376742

2002
dbSNP: rs267608092
rs267608092
MSH6 ; FBXO11
C 0.700 CausalMutation CLINVAR Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation. 11807791

2002