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
KRAS-G12C: The neglected biomarker to detect patients with MUTYH-associated polyposis.
Medeiros ABD et al.
International Journal of Cancer, 2026
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan.
Zheng Y et al.
International Journal of Cancer, 2025
DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.
Tan S et al.
Cancer, 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
Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.
Faria JP et al.
Breast Cancer Research and Treatment, 2024
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
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
A novel patient-derived cell line of adrenocortical carcinoma shows a pathogenic role of germline MUTYH mutation and high tumour mutational burden.
Landwehr LS et al.
European Journal of Endocrinology, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.
Zhang H et al.
Oncology Letters, 2021
Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk.
Lang GT et al.
Annals of Translational Medicine, 2020
Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.
Rizzolo P et al.
Frontiers in Oncology, 2018
Oxidative DNA damage induces hypomethylation in a compromised base excision repair colorectal tumourigenesis.
Furlan D et al.
British Journal of Cancer, 2017
Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population.
Shinmura K et al.
Human Mutation, 2016
Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.
Win AK et al.
Familial Cancer, 2015
Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis.
Errichiello E et al.
Journal of Molecular Medicine (berlin, Germany), 2015
Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)--update 2014.
Aretz S et al.
European Journal of Human Genetics : Ejhg, 2015
MUTYH-associated colorectal cancer and adenomatous polyposis.
Yamaguchi S et al.
Surgery Today, 2014
Oxidative DNA damage drives carcinogenesis in MUTYH-associated-polyposis by specific mutations of mitochondrial and MAPK genes.
Venesio T et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2013
Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.
Torrezan GT et al.
Orphanet Journal of Rare Diseases, 2013
MUTYH-associated polyposis (MAP).
Nielsen M et al.
Critical Reviews in Oncology/hematology, 2011
Leiden Open Variation Database of the MUTYH gene.
Out AA et al.
Human Mutation, 2010
[From gene to disease; MutYH-associated polyposis coli (MAP)].
Nielsen M et al.
Nederlands Tijdschrift Voor Geneeskunde, 2005