Article
Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. Online.
Human mutation - 1 Jan 1999
Scarano M I, De Rosa M, Panariello L, Carlomagno N, Riegler G, Rossi G B, Bucci L, Pesce G, Toni F, Renda A, Izzo P
Abstract excerpt
Germline mutations within the adenomatous polyposis coli (APC) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations within this gene have been described (Beroud and Soussi, 1996). Of these, about 95% are chain-terminating mutations, and more...
Topics
- Adenomatous Polyposis Coli
- Adenomatous Polyposis Coli Protein
- Cytoskeletal Proteins
- DNA Mutational Analysis
- Exons
- Frameshift Mutation
- Germ-Line Mutation
- Humans
- Italy
- Molecular Sequence Data
- Phenotype
- Polymorphism, Single-Stranded Conformational