Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3' APC mutation

Autor:	Kartheuser, A., Walon, C., West, S., Breukel, C., Detry, R., Gribomont, A. -C, Hamzehloei, T., Hoang, P., Maiter, D., Pringot, J., Rahier, J., Khan, P. M., Curtis, A., Burn, J., Riccardo Fodde, Verellen-Dumoulin, C.
Přispěvatelé:	UCL - MD/CHIR - Département de chirurgie, UCL - MD/MINT - Département de médecine interne, UCL - MD/MNOP - Département de morphologie normale et pathologique, UCL - (SLuc) Service de chirurgie et transplantation abdominale, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - (SLuc) Service d'anatomie pathologique, UCL - (SLuc) Service d'ophtalmologie, UCL - MD/NOPS - Département de neurologie et de psychiatrie
Předmět:	Familial adenomatous polyposis Male Genes APC Short Report Adrenal adenoma Heteroduplex Analysis Sequence Analysis DNA Middle Aged digestive system diseases Pedigree Phenotype Adenomatous Polyposis Coli Adrenocortical Adenoma Humans APC mutation Germ-Line Mutation
Zdroj:	Scopus-Elsevier Europe PubMed Central Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics, Vol. 36, no. 1, p. 65-67 (1999)
Popis:	Familial adenomatous polyposis (FAP) is characterised by hundreds of colorectal adenomas. Endocrine neoplasms have occasionally been reported, as have gastric polyps, which are usually hamartomatous in the fundus of the stomach and adenomatous in the antrum. A 57 year old man with colorectal, gastric, and periampullary adenomatous polyposis, in association with three bilateral adrenocortical adenomas, is presented. Mutation screening showed a 5960delA germline mutation in the adenomatous polyposis coli (APC) gene predicted to lead to a premature stop codon. This mutation was found in three of the four children of the patient. Western blot analysis of a lymphoblastoid cell line derived from the patient failed to detect any truncated APC polypeptide. This rare 3' mutation is responsible for an unusually complex and late onset phenotype of FAP. Keywords: familial adenomatous polyposis; APC mutation; adrenal adenoma
Databáze:	OpenAIRE
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