Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies.
|
29406563 |
2018 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.
|
28533537 |
2017 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.
|
27829682 |
2017 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
|
27978560 |
2017 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.
|
27829682 |
2017 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
Biomarker
|
disease |
CLINGEN |
Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine.
|
28087410 |
2017 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
|
28349240 |
2017 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas.
|
28127763 |
2017 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
Biomarker
|
disease |
CLINGEN |
Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine.
|
28087410 |
2017 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
|
26446593 |
2016 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.
|
27194394 |
2016 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.
|
26824983 |
2016 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.
|
27194394 |
2016 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
|
26976419 |
2016 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas.
|
26902849 |
2016 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population.
|
26694661 |
2016 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
|
26446593 |
2016 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing.
|
25151137 |
2015 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
MUTYH mediates the toxicity of combined DNA 6-thioguanine and UVA radiation.
|
25638157 |
2015 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA affinity, glycosylase activity and interaction with PCNA and Hus1.
|
26377631 |
2015 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Patterns and functional implications of rare germline variants across 12 cancer types.
|
26689913 |
2015 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Genomic variations integrated database for MUTYH-associated adenomatous polyposis.
|
25368107 |
2015 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing.
|
25590978 |
2015 |