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 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 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 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 Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer. 23541221

2013
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
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