## 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
A novel mutation at the splice junction of exon 9 of the APC gene in familial adenomatous polyposis
β Scribed by Alessandro Cama; Diana L. Esposito; Raffaele Palmirotta; Maria Cristina Curia; Annalisa Ranieri; Ferdinando Ficari; Rosa Valanzano; Andrea Modesti; Pasquale Battista; Francesco Tonelli; Renato Mariani-Costantini
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 441 KB
- Volume
- 3
- Category
- Article
- ISSN
- 1059-7794
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A family is presented with attenuated familial adenomatous polyposis of variable phenotype. The clinical features range from sparse right-sided polyposis and cancer in the proximal colon at the age of 34 to pan-colonic polyposis and cancer at the age of 68. Rectal sparing is common to all affected m
## 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
Familial adenomatous polyposis (FAP) is caused by germline mutations in the tumor suppressor gene APC. To date, the relevance of rare exonic single-base substitutions at nucleotide positions close to splice sites that are predicted to result in missense or silent (SNP) variants or substitutions in i
Patients with Familial Adenomatous Polyposis (FAP) manifest numerous colorectal adenomas as well as benign and malignant extra-colonic lesions. Adenomatous polyposis coli (APC) gene mutations are the underlying genetic defect in FAP. We analyzed germline D N A of 81 unrelated FAP patients and evalua