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
The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers.
Moncado S et al.
Genes, 2025
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Kerr SM et al.
American Journal of Human Genetics, 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
High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.
Shumilova S et al.
International Journal of Molecular Sciences, 2024
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
Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma.
Feng H et al.
Translational Andrology and Urology, 2023
Evolutionary Origin of MUTYH Germline Pathogenic Variations in Modern Humans.
Xiao F et al.
Biomolecules, 2023
Hereditary Cancer Syndrome in a Family with Double Mutation in BRIP1 and MUTYH Genes.
D'Elia G et al.
Genes, 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
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.
Georgeson P et al.
Nature 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
Rosenthal SH et al.
Biomed Research International, 2020
Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.
Liu Q et al.
Journal of Cancer, 2019
Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies.
Yanus GA et al.
Clinical Genetics, 2018
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
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
Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma.
Boesaard EP et al.
Hereditary Cancer in Clinical Practice, 2014
Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.
Knopperts AP et al.
Familial Cancer, 2013
Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis.
Shinmura K et al.
World Journal of Gastroenterology, 2012
MUTYH gene variants and breast cancer in a Dutch case–control study.
Out AA et al.
Breast Cancer Research and Treatment, 2012
Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.
Rohlin A et al.
Oncogene, 2011
MUTYH-associated polyposis (MAP).
Nielsen M et al.
Critical Reviews in Oncology/hematology, 2011
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
[Hereditary colorectal cancer; familial adenomatous polyposis, MUTYH associated polyposis and Lynch syndrome].
Iwama T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2011
Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.
Wasielewski M et al.
Breast Cancer Research and Treatment, 2010
Leiden Open Variation Database of the MUTYH gene.
Out AA et al.
Human Mutation, 2010
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
[From gene to disease; MutYH-associated polyposis coli (MAP)].
Nielsen M et al.
Nederlands Tijdschrift Voor Geneeskunde, 2005