Associated Papers
Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.
Paksoy B et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Prevalence of MUTYH Monoallelic Variants in Patients With Hereditary Cancer Using Multigene Panel Testing.
Caliendo G et al.
Cancer Medicine, 2025
Generating a database by calculating the pathogenic variants and allele frequencies detected in hereditary cancers using genomic data: A nation study.
Ali MSB et al.
Global Medical Genetics, 2025
Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population.
Grech L et al.
Molecular Genetics & Genomic Medicine, 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
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Saturation mapping of MUTYH variant effects using DNA repair reporters.
Hemker SL et al.
Biorxiv : the Preprint Server for Biology, 2025
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health 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
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
A second case report of medulloblastoma in a patient carrying biallelic pathogenic MUTYH germline variants.
Cipri S et al.
Neuropathology and Applied Neurobiology, 2024
Comprehensive molecular profiling of sarcomas in adolescent and young adult patients: Results of the EORTC SPECTA-AYA international proof-of-concept study.
Morfouace M et al.
European Journal of Cancer (oxford, England : 1990), 2023
Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.
Anaclerio F 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
Contribution of Inherited Variants to Hereditary Cancer Syndrome Predisposition.
Güleç Ceylan G et al.
The Tohoku Journal of Experimental Medicine, 2022
Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in BRCA and in Other Susceptibility Genes.
D'Elia G et al.
Genes, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer.
Ozmen V et al.
Oncology Letters, 2022
Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing.
Ercoskun P et al.
Molecular Syndromology, 2022
Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.
Dell'Elice A et al.
Molecular Genetics & Genomic Medicine, 2021
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Mao R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Exome sequencing of familial adenomatous polyposis-like individuals identifies both known and novel causative genes.
Xavier A et al.
Clinical Genetics, 2021
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
Spectrum of germline cancer susceptibility gene mutations in Turkish colorectal cancer patients: a single center study
Erdem HB et al.
Turkish Journal of Medical Sciences, 2020
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
Chirita-Emandi A et al.
Scientific Reports, 2020
Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings.
Maynard H et al.
Cancer, 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
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).
Ramírez-Calvo M et al.
Hereditary Cancer in Clinical Practice, 2019
Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.
Liu Q et al.
Journal of Cancer, 2019
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
The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.
Kwok CT et al.
European Journal of Human Genetics : Ejhg, 2014
MUTYH-associated colorectal cancer and adenomatous polyposis.
Yamaguchi S et al.
Surgery Today, 2014
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
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
Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling.
Özdemir Z et al.
Mutation Research, 0