Blog
About

12
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      Pituitary adenoma predisposition caused by germline mutations in the AIP gene.

      Science (New York, N.Y.)

      physiology, Adenoma, genetics, Proteins, Prolactinoma, Polymorphism, Single Nucleotide, Pituitary Neoplasms, Penetrance, Pedigree, Oligonucleotide Array Sequence Analysis, Male, Loss of Heterozygosity, Lod Score, Intracellular Signaling Peptides and Proteins, Humans, Heterozygote, Haplotypes, Growth Hormone-Secreting Pituitary Adenoma, Germ-Line Mutation, Genetic Testing, Genetic Predisposition to Disease, Gene Expression Profiling, Finland, Female, Cohort Studies, Age of Onset, Sex Distribution

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          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.

          Related collections

          Author and article information

          Journal
          16728643
          10.1126/science.1126100

          Comments

          Comment on this article