title: APC gene mutations in Italian familial polyposis coli patients.
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.
authors.affiliation: Istituto Nazionale per la Ricerca sul Cancro, Genova, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Varesco
authors.forename: V
authors.initials: V
authors.lastname: Gismondi
authors.forename: R
authors.initials: R
authors.lastname: James
authors.forename: L
authors.initials: L
authors.lastname: De Benedetti
authors.forename: A
authors.initials: A
authors.lastname: Heouaine
authors.forename: R
authors.initials: R
authors.lastname: Biticchi
authors.forename: E
authors.initials: E
authors.lastname: Masetti
authors.forename: L
authors.initials: L
authors.lastname: Bertario
authors.forename: P
authors.initials: P
authors.lastname: Sala
authors.forename: P
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002895:Chromosomes, Human, Pair 5; D004273:DNA, Neoplasm / Q000235:genetics*; D005190:Family; D006801:Humans; D007558:Italy; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D004273:DNA, Neoplasm