Associated Papers
KRAS-G12C: The neglected biomarker to detect patients with MUTYH-associated polyposis.
Medeiros ABD et al.
International Journal of Cancer, 2026
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
Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population.
Grech L et al.
Molecular Genetics & Genomic Medicine, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
Sanabria-Salas MC et al.
European Journal of Human Genetics : Ejhg, 2025
Optimizing genetic testing strategy for suspected attenuated adenomatous polyposis: effective solutions in public health systems.
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
Saturation mapping of MUTYH variant effects using DNA repair reporters.
Hemker SL et al.
Biorxiv : the Preprint Server for Biology, 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
Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients.
Abdelmaksoud-Dammak R et al.
Plos One, 2025
Genetic investigation of a Tunisian family with Lynch syndrome: a case report.
Abdelmaksoud-Dammak R et al.
Frontiers in Oncology, 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
Phenotype correlations with pathogenic DNA variants in the MUTYH gene.
Thet M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetic testing for hereditary cancer syndromes in Tunisian patients: Impact on health system.
Jandoubi N et al.
Translational Oncology, 2024
Surveillance Outcome and Genetic Findings in Individuals at High Risk of Pancreatic Cancer.
Rosner G et al.
Clinical and Translational Gastroenterology, 2024
Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases.
Thet M et al.
Human Mutation, 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
Combined germline and tumor mutation signature testing identifies new families with NTHL1 tumor syndrome.
Pinto C et al.
Frontiers in Genetics, 2023
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
Poliani L et al.
Esmo Open, 2022
Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.
Nassar A et al.
Current Issues in Molecular Biology, 2022
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
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
Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach.
Oliver J et al.
Frontiers in Oncology, 2019
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.
Vargas-Parra GM et al.
International Journal of Cancer, 2017
Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.
Paulo P et al.
The Journal of Molecular Diagnostics : Jmd, 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
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.
Castillejo A et al.
European Journal of Cancer (oxford, England : 1990), 2014
Genetic predisposition to colorectal cancer: where we stand and future perspectives.
Valle L
World Journal of Gastroenterology, 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
High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene.
Tricarico R et al.
Bmc Cancer, 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
Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.
Wasielewski M et al.
Breast Cancer Research and Treatment, 2010
MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer.
Giráldez MD et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010
[From gene to disease; MutYH-associated polyposis coli (MAP)].
Nielsen M et al.
Nederlands Tijdschrift Voor Geneeskunde, 2005