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Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli

✍ Scribed by Gitana Aceto; Maria Cristina Curia; Serena Veschi; Laura De Lellis; Sandra Mammarella; Teresa Catalano; Liborio Stuppia; Giandomenico Palka; Rosa Valanzano; Francesco Tonelli; Vincenzo Casale; Vittoria Stigliano; Francesco Cetta; Pasquale Battista; Renato Mariani-Costantini; Alessandro Cama


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
90 KB
Volume
26
Category
Article
ISSN
1059-7794

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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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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

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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

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Germline mutations in the tumor-suppresor APC gene are associated with hereditary familial adenomatous polyposis (FAP) and somatic mutations are common in sporadic colorectal cancer. In this study, we report the identification of three novel germline mutations: 1682-1683insA, 3252-3253insAT, 3544A>T

Prevalence of MYH germline mutations in
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## Abstract In 10–30% of patients with classical familial adenomatous polyposis (FAP) and up to 90% of those with attenuated (<100 colorectal adenomas; AFAP) polyposis, no pathogenic germline mutation in the adenomatous polyposis coli (__APC__) gene can be identified (__APC__ mutation‐negative). Re