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
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A Pilot Study: Contrasting Genomic Profiles of Lung Adenocarcinoma Between Patients of European and Latin American Ancestry.
Rueda-Zarazua B et al.
International Journal of Molecular Sciences, 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
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes
Doddato G et al.
Frontiers in Oncology, 2021
Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies.
Te Paske IBAW et al.
International Journal of Molecular Sciences, 2020
Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.
Pandey A et al.
Nature Communications, 2020
c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis.
Kdissa A et al.
Cancer Genetics, 2020
Association of a New Germline Variant in the MUTYH DNA Glycosylase Gene with Colorectal Adenoma Transformation into Malignancy
Mahasneh A et al.
Iranian Biomedical Journal, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Mutation analysis of MUTYH in Japanese colorectal adenomatous polyposis patients.
Taki K et al.
Familial Cancer, 2016
The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management.
Leoz ML et al.
The Application of Clinical Genetics, 2015
Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene.
Grasso F et al.
Human Molecular Genetics, 2014
MUTYH-associated colorectal cancer and adenomatous polyposis.
Yamaguchi S et al.
Surgery Today, 2014
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.
Pin E et al.
International Journal of Cancer, 2013
Frequent mutation in North African patients with MUTYH-associated polyposis.
Lefevre JH et al.
Clinical Genetics, 2011
Leiden Open Variation Database of the MUTYH gene.
Out AA et al.
Human Mutation, 2010