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 journalArticle

8 Citations (Scopus)

Abstract

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
Volume17
Issue number2
Publication statusPublished - 1993

Fingerprint

APC Genes
Adenomatous Polyposis Coli
Mutation
Colectomy
Routine Diagnostic Tests
Adenoma
Endoscopy
Young Adult
Colorectal Neoplasms
DNA
Genes

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

Varesco, L., Gismondi, V., James, R., De Benedetti, L., Heouaine, A., Biticchi, R., ... Grammatico, P. (1993). APC gene mutations in Italian familial polyposis coli patients. Cancer Detection and Prevention, 17(2), 279-281.

APC gene mutations in Italian familial polyposis coli patients. / Varesco, L.; Gismondi, V.; James, R.; De Benedetti, L.; Heouaine, A.; Biticchi, R.; Masetti, E.; Bertario, L.; Sala, P.; Grammatico, P.

In: Cancer Detection and Prevention, Vol. 17, No. 2, 1993, p. 279-281.

Research output: Contribution to journalArticle

Varesco, L, Gismondi, V, James, R, De Benedetti, L, Heouaine, A, Biticchi, R, Masetti, E, Bertario, L, Sala, P & Grammatico, P 1993, 'APC gene mutations in Italian familial polyposis coli patients.', Cancer Detection and Prevention, vol. 17, no. 2, pp. 279-281.
Varesco L, Gismondi V, James R, De Benedetti L, Heouaine A, Biticchi R et al. APC gene mutations in Italian familial polyposis coli patients. Cancer Detection and Prevention. 1993;17(2):279-281.
Varesco, L. ; Gismondi, V. ; James, R. ; De Benedetti, L. ; Heouaine, A. ; Biticchi, R. ; Masetti, E. ; Bertario, L. ; Sala, P. ; Grammatico, P. / APC gene mutations in Italian familial polyposis coli patients. In: Cancer Detection and Prevention. 1993 ; Vol. 17, No. 2. pp. 279-281.
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