A Novel Frameshift Mutation in Exon 12 of the Adenomatous Polyposis Coli Gene in an Italian Family with Familial Adenomatous Polyposis and Desmoid Tumour | oneFAPvoice

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A Novel Frameshift Mutation in Exon 12 of the Adenomatous Polyposis Coli Gene in an Italian Family with Familial Adenomatous Polyposis and Desmoid Tumour

key information

source: Journal of molecular and genetic medicine

year: 2010

authors: Vietri M T, Selvaggi F, De Paola M L, Sciaudone G, Guadagni I, Parisi M, Pellino G, Molinari A M, Cioffi M

summary/abstract:

The adenomatous polyposis coli (APC) gene, localized on chromosome 5, consists of 15 exons. The largest is the exon 15, which comprises more than 75% of the coding sequence of the gene and is the most common target for both germline and somatic mutations. The germline mutations in the APC gene are in charge of the familial adenomatous polyposis (FAP), a rare autosomal inherited disease. These mutations predispose to develop colonic polyps and other extraintestinal neoplasms, including desmoid tumour in subjects between 15 and 60 years. The estimated risk of developing a desmoid tumour in patients with FAP is between 4 and 20 percent. This risk increases about 2 years after colectomy.

We studied a woman (56 years old) affected with FAP and desmoid tumour and her three children (two daughters and one son). This study was carried out in accordance with the World Medical Association Helsinki Declaration, adopted in 1964 and amended in 1975, 1983, 1989, 1996 and 2000. Informed consents were obtained from all subjects, and the study was approved and conducted according to the ethical guidelines of the Second School of Naples. The pedigree was generated by the genetic counsellor and the case-histories of the subjects were collected.

organisation: Second Medical School of Naples

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