Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Defective DNA repair: a putative nexus linking immunological diseases, neurodegenerative disorders, and cancer.
Andarawi S et al.
Mutagenesis, 2025
Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans.
Park JE et al.
Annals of Laboratory Medicine, 2025
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
DARVIC: Dihedral angle-reliant variant impact classifier for functional prediction of missense VUS.
Lagniton PNP et al.
Computer Methods and Programs in Biomedicine, 2023
Evolutionary Origin of MUTYH Germline Pathogenic Variations in Modern Humans.
Xiao F et al.
Biomolecules, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing.
Ercoskun P et al.
Molecular Syndromology, 2022
Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.
Dell'Elice A et al.
Molecular Genetics & Genomic Medicine, 2021
Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.
Georgeson P et al.
Gut, 2021
Spectrum of germline cancer susceptibility gene mutations in Turkish colorectal cancer patients: a single center study
Erdem HB et al.
Turkish Journal of Medical Sciences, 2020
Thermostability and excision activity of polymorphic forms of hOGG1.
Mouzakis KD et al.
Bmc Research Notes, 2019
Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing.
Spurdle AB et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2017
MUTYH-associated colorectal cancer and adenomatous polyposis.
Yamaguchi S et al.
Surgery Today, 2014
Clinical and molecular features of attenuated adenomatous polyposis in northern Italy.
de Leon MP et al.
Techniques in Coloproctology, 2013
Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis.
Shinmura K et al.
World Journal of Gastroenterology, 2012
Reprint of: gene susceptibility to oxidative damage: from single nucleotide polymorphisms to function.
Simonelli V et al.
Mutation Research, 2012
Gene susceptibility to oxidative damage: from single nucleotide polymorphisms to function.
Simonelli V et al.
Mutation Research, 2012
DNA glycosylase encoded by MUTYH functions as a molecular switch for programmed cell death under oxidative stress to suppress tumorigenesis.
Oka S et al.
Cancer Science, 2011
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.
Goto M et al.
Human Mutation, 2010
MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.
Morak M et al.
Clinical Genetics, 2010