Pituitary adenoma predisposition caused by germline mutations in the AIP gene


Vierimaa O., Georgitsi M., Lehtonen R., Vahteristo P., Kokko A., Raitila A., ...Daha Fazla

SCIENCE, cilt.312, sa.5777, ss.1228-1230, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 312 Sayı: 5777
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1126/science.1126100
  • Dergi Adı: SCIENCE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1228-1230
  • İstanbul Üniversitesi Adresli: Hayır

Özet

Pituitary adenomas are common in the general population, and understanding their molecular basis is of great interest. Combining chip-based technologies with genealogy data, we identified germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene in individuals with pituitary adenoma predisposition (PAP). AIP acts in cytoplasmic retention of the latent form of the aryl hydrocarbon receptor and also has other functions. In a population-based series from Northern Finland, two AIP mutations account for 16% of all patients diagnosed with pituitary adenomas secreting growth hormone and for 40% of the subset of patients who were diagnosed when they were younger than 35 years of age. Typically, PAP patients do not display a strong family history of pituitary adenoma; thus, AIP is an example of a low-penetrance tumor susceptibility gene.