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

Kartheuser, Alex;Walon, Corinne;West, Sarah;Breukel, Cor;Dumoulin, Christine;et.al.
(1999) Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics — Vol. 36, n° 1, p. 65-67 (1999)

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Authors
  • Kartheuser, AlexUCLouvain
    Author
  • Walon, CorinneUCLouvain
    Author
  • West, Sarah
    Author
  • Breukel, Cor
    Author
  • Detry, RogerUCLouvain
    Author
  • Gribomont, Anne-CatherineUCLouvain
    Author
  • Hoang, PierreUCLouvain
    Author
  • Maiter, DominiqueUCLouvain
    Author
  • Pringot, JacquesUCLouvain
    Author
  • Rahier, JacquesUCLouvain
    Author
  • Dumoulin, ChristineUCLouvain
    Author
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Abstract
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.
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Kartheuser, A., Walon, C., West, S., Breukel, C., Detry, R., Gribomont, A.-C., Hamzehloei, T., Hoang, P., Maiter, D., Pringot, J., Rahier, J., Khan, M. P., Curtis, A., Burn, J., Fodde, R., & Dumoulin, C. (1999). Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3′ APC mutation. Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics, 36(1), 65-67. https://hdl.handle.net/2078.5/97009 (Original work published 1999)