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
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Genetic predisposition to polyposis syndromes.
García-Simón N et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2025
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Saturation mapping of MUTYH variant effects using DNA repair reporters.
Hemker SL et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc 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
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 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
Exome sequencing identifies novel genes and variants in patients with Hirschsprung disease.
Gunadi et al.
Journal of Pediatric Surgery, 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
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
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
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
Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies.
Yanus GA et al.
Clinical Genetics, 2018
Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD).
Ramchander NC et al.
Bmc Medical Genetics, 2017
Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.
Ricci MT et al.
Journal of Human Genetics, 2017
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
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 predisposition to colorectal cancer: where we stand and future perspectives.
Valle L
World Journal of Gastroenterology, 2014
MUTYH-associated colorectal cancer and adenomatous polyposis.
Yamaguchi S et al.
Surgery Today, 2014
Frequent mutation in North African patients with MUTYH-associated polyposis.
Lefevre JH et al.
Clinical Genetics, 2011
MUTYH-associated polyposis (MAP).
Nielsen M et al.
Critical Reviews in Oncology/hematology, 2011
[Hereditary colorectal cancer; familial adenomatous polyposis, MUTYH associated polyposis and Lynch syndrome].
Iwama T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 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