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Familial adenomatous polyposis coli: Five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients

✍ Scribed by Maria I. Scarano; Marina De Rosa; Luigi Panariello; Nicola Carlomagno; Gabriele Riegler; Giovanni B. Rossi; Luigi Bucci; Giuseppe Pesce; Federico Toni; Andrea Renda; Paola Izzo

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
74 KB
Volume
13
Category
Article
ISSN
1059-7794

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✦ Synopsis

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 than 60% have been localized within exon 15 (Nagase and Nakamura, 1993, Beroud and Soussi, 1996). Using polymerase chain reaction-single strand conformation polymorphism, protein truncation test (PTT) and DNA sequencing we have identified five new frameshift mutations (2523insCTTA, 2638delA, 2803insA, 3185delAA, 4145delTCATGT), all occurring within exon 15 and giving rise to truncated protein products. Two of these new mutations are of particular interest because of the unusual phenotypic features shown by probands. The phenotype of the

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Hypermethylation of the APC (adenomatous
Hypermethylation of the APC (adenomatous Polyposis Coli) gene promoter region in human colorectal carcinoma
✍ Mikko O. Hiltunen; Leena Alhonen; Jari Koistinaho; Sanna MyΓΆhΓ€nen; Matti PÀÀkkΓΆn πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 French βš– 206 KB πŸ‘ 2 views

Germline mutations of the putative tumor suppressor gene APC are associated in high frequency with the familial adenomatous polyposis, predisposing the patients to colorectal neoplasia. Similarly, sequence analyses have revealed that in more than half of patients with sporadic colorectal carcinoma o

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## Background: The authors examined somatic mutations of the adenomatous polyposis coli (apc) gene in 84 human aberrant crypt foci (acf) to determine whether apc gene mutations were involved in the histologic progression of acf. ## Methods: Mutation cluster regions of the apc gene were subjected