Type and frequency of MUTYH variants in Italian patients with suspected MAP: A retrospective multicenter study

M.T. Ricci, S. Miccoli, D. Turchetti, D. Bondavalli, A. Viel, M. Quaia, E. Giacomini, V. Gismondi, L. Sanchez-Mete, V. Stigliano, A. Martayan, F. Mazzei, M. Bignami, L. Bonelli, L. Varesco

Research output: Contribution to journalArticlepeer-review


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
Original languageEnglish
Pages (from-to)309-315
Number of pages7
JournalJournal of Human Genetics
Issue number2
Publication statusPublished - 2017


  • amino acid
  • DNA glycosylase MutY
  • nucleotide
  • DNA glycosyltransferase
  • adolescent
  • adult
  • aged
  • Article
  • autosomal recessive disorder
  • cancer diagnosis
  • cancer patient
  • cohort analysis
  • colorectal adenoma
  • colorectal cancer
  • colorectal polyp
  • colorectal tumor
  • exon
  • female
  • gastrointestinal polyposis
  • gene deletion
  • gene frequency
  • gene mutation
  • gene rearrangement
  • genetic association
  • genetic correlation
  • genetic heterogeneity
  • genetic screening
  • genetic variability
  • genotype
  • genotype phenotype correlation
  • hereditary colorectal cancer
  • homozygote
  • human
  • Italian (citizen)
  • major clinical study
  • male
  • multiplex ligation dependent probe amplification
  • mutation rate
  • mutational analysis
  • MUTYH associated polyposis
  • onset age
  • phenotype
  • prevalence
  • retrospective study
  • clinical trial
  • colon polyp
  • genetic association study
  • genetic predisposition
  • genetics
  • Italy
  • middle aged
  • multicenter study
  • multiplex polymerase chain reaction
  • mutation
  • pathology
  • very elderly
  • young adult
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Colonic Polyps
  • Colorectal Neoplasms
  • DNA Glycosylases
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Multiplex Polymerase Chain Reaction
  • Mutation
  • Phenotype
  • Retrospective Studies
  • Young Adult


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