Familial adenomatous polyposis: Identification of a new frameshift mutation of the APC gene in an Italian family
β Scribed by Alessandro Stella; Angelo Lonoce; Nicoletta Resta; Mattia Gentile; Francesco Susca; Cristina Mareni; Giuseppina Brescia; Paola Origoni; Maria Pina Montero; Ginevra Guanti
- Book ID
- 117054802
- Publisher
- Elsevier Science
- Year
- 1992
- Tongue
- English
- Weight
- 697 KB
- Volume
- 184
- Category
- Article
- ISSN
- 0006-291X
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## 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 with
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## Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and alm