Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395

2016
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. 25938944

2015
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma. 25937855

2014
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR MUTYH-associated colorectal cancer and adenomatous polyposis. 23605219

2014
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review. 23007840

2013
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis. 23322991

2012
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR MUTYH gene variants and breast cancer in a Dutch case–control study. 22297469

2012
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer. 20191381

2010
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. 20618354

2010
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659

2010
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer. 19836313

2009
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposis. 19031083

2009
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584

2006
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization. 16616356

2006
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 16140997

2005