Type and frequency of MUTYH variants in Italian patients with suspected MAP: A retrospective multicenter study
| Autor: | Viviana Gismondi, Michele Quaia, Davide Bondavalli, Sara Miccoli, Filomena Mazzei, Aline Martayan, Maria Teresa Ricci, Margherita Bignami, Lupe Sanchez-Mete, Alessandra Viel, Vittoria Stigliano, Elisa Giacomini, Liliana Varesco, Luigina Bonelli, Daniela Turchetti |
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| Přispěvatelé: | Ricci, Maria Teresa, Miccoli, Sara, Turchetti, Daniela, Bondavalli, Davide, Viel, Alessandra, Quaia, Michele, Giacomini, Elisa, Gismondi, Viviana, Sanchez-Mete, Lupe, Stigliano, Vittoria, Martayan, Aline, Mazzei, Filomena, Bignami, Margherita, Bonelli, Luigina, Varesco, Liliana |
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Adolescent Genotype Colonic Polyps Gene mutation Biology Bioinformatics Gastroenterology DNA Glycosylases Young Adult 03 medical and health sciences Genetic MUTYH Internal medicine Genetics medicine Humans Genetic Predisposition to Disease Genetic Testing Genetic Association Studies Genetics (clinical) Aged Retrospective Studies Genetic testing Aged 80 and over medicine.diagnostic_test Genetic heterogeneity MUTYH-Associated Polyposis Gene rearrangement Middle Aged medicine.disease Colon polyps Phenotype 030104 developmental biology Italy Colorectal Polyp Mutation Female Colorectal Neoplasms Multiplex Polymerase Chain Reaction |
| Popis: | To determine prevalence, spectrum and genotype-phenotype correlations of MUTYH variants in Italian patients with suspected MAP (MUTYH-associated polyposis), a retrospective analysis was conducted to identify patients who had undergone MUTYH genetic testing from September 2002 to February 2014. Results of genetic testing and patient clinical characteristics were collected (gender, number of polyps, age at polyp diagnosis, presence of colorectal cancer (CRC) and/or other cancers, family data). The presence of large rearrangements of the MUTYH gene was evaluated by Multiplex Ligation-dependent Probe Amplification analysis. In all, 299 patients with colorectal neoplasia were evaluated: 61.2% were males, the median age at polyps or cancer diagnosis was 50 years (16-80 years), 65.2% had |
| Databáze: | OpenAIRE |
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