rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis.
|
23322991 |
2012 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.
|
16557584 |
2006 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
|
28944238 |
2017 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposis.
|
19031083 |
2009 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma.
|
25937855 |
2014 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
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 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
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 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
MUTYH-associated colorectal cancer and adenomatous polyposis.
|
23605219 |
2014 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
|
25820570 |
2015 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
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 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
MUTYH gene variants and breast cancer in a Dutch case–control study.
|
22297469 |
2012 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
|
25938944 |
2015 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
|
19732775 |
2009 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.
|
20191381 |
2010 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).
|
16140997 |
2005 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
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 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.
|
16616356 |
2006 |
rs529008617
|
|
Neoplastic Syndromes, Hereditary
|
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 |