Associated Papers
Bridging data gaps: Methodological advances in extracting and analyzing genetic information from unstructured clinical records in hereditary cancer.
Cardona DS et al.
Cancer Epidemiology, 2025
Saturation mapping of MUTYH variant effects using DNA repair reporters.
Hemker SL et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic investigation of a Tunisian family with Lynch syndrome: a case report.
Abdelmaksoud-Dammak R et al.
Frontiers in Oncology, 2025
Phenotype correlations with pathogenic DNA variants in the MUTYH gene.
Thet M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
First report of medulloblastoma in a patient with MUTYH-associated polyposis.
Villy MC et al.
Neuropathology and Applied Neurobiology, 2023
Multiple basal cell carcinomas revealing a biallelic MUTYH gene mutation in a 39-year-old male patient.
Tzoumpa S et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.
Georgeson P et al.
Nature Communications, 2022
c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis.
Kdissa A et al.
Cancer Genetics, 2020
Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing.
Lorca V et al.
Scientific Reports, 2019
Molecular basis of familial adenomatous polyposis in the southeast of Brazil: identification of six novel mutations.
Araujo LF et al.
The International Journal of Biological Markers, 2019
Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies.
Yanus GA et al.
Clinical Genetics, 2018
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
Biallelic MUTYH mutations can mimic Lynch syndrome.
Morak M et al.
European Journal of Human Genetics : Ejhg, 2014
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.
Castillejo A et al.
European Journal of Cancer (oxford, England : 1990), 2014
Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene.
Grasso F et al.
Human Molecular Genetics, 2014
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
[Hereditary colorectal cancer; familial adenomatous polyposis, MUTYH associated polyposis and Lynch syndrome].
Iwama T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2011