APC gene mutations in Italian familial polyposis coli patients.

L. Varesco, V. Gismondi, R. James, L. De Benedetti, A. Heouaine, R. Biticchi, E. Masetti, L. Bertario, P. Sala, P. Grammatico

Research output: Contribution to journalArticlepeer-review


Adenomatous polyposis coli is an autosomal dominant disease characterized by the development of hundreds of colorectal adenomas in young adults. If prophylactic colectomy is not performed, colorectal cancer develops in virtually all affected individuals by the fifth decade of life. All at-risk relatives older than 10 years of age need to be screened regularly by endoscopy. Recently, the gene responsible for the disease, the APC gene, was cloned. The finding of inactivating mutations of the APC gene in Italian APC patients allowed us to offer DNA-based diagnostic tests to these families.

Original languageEnglish
Pages (from-to)279-281
Number of pages3
JournalCancer Detection and Prevention
Issue number2
Publication statusPublished - 1993

ASJC Scopus subject areas

  • Cancer Research
  • Oncology


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