Pituitary Adenoma Predisposition Caused by Germline Mutations in the AIP Gene

@article{Vierimaa2006PituitaryAP,
  title={Pituitary Adenoma Predisposition Caused by Germline Mutations in the AIP Gene},
  author={Outi Vierimaa and Marianthi Georgitsi and Rainer Lehtonen and Pia Vahteristo and Antti Kokko and Anniina Raitila and Karoliina Tuppurainen and Tapani Ebeling and Pasi I. Salmela and Ralf Paschke and Sadi G{\"u}ndoğdu and Ernesto de Menis and Markus J. M{\"a}kinen and Virpi Launonen and Auli Karhu and Lauri A. Aaltonen},
  journal={Science},
  year={2006},
  volume={312},
  pages={1228 - 1230}
}
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… Expand
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations
TLDR
AIP IHC, followed by genetic counseling and possible AIP mutation analysis in IHC-negative cases, appears feasible in identification of PAP, a procedure similar to the diagnostics of the Lynch syndrome. Expand
Molecular genetics of the aip gene in familial pituitary tumorigenesis.
TLDR
Clinical and molecular data regarding the role of AIP in the pituitary gland are summarized, showing it is not clear which interaction has the leading role in pituitsary tumorigenesis. Expand
No evidence of RET germline mutations in familial pituitary adenoma.
TLDR
It is concluded that the RET variants are presumably not related to pituitary adenoma predisposition, although reduced RET expression may play a role in AIP-related genesis of somatotropinomas. Expand
AIP gene in pituitary adenoma predisposition
TLDR
The purpose of this review is to briefly recapitulate the current knowledge on hereditary susceptibility to pituitary adenomas and what led to the identification of AIP as a novel predisposition gene. Expand
Mutations of the Gene for the Aryl Hydrocarbon Receptor-Interacting Protein in Pituitary Adenomas
TLDR
A genotype-phenotype correlation is proposed: patients with AIP mutations resulting in a truncated protein are significantly younger than those bearing a mutation which preserves the structure of the C-terminal end of the protein, indicating AIP is involved in the development of pituitary tumors. Expand
AIP Mutations are not Identified in Patients with Sporadic Pituitary Adenomas
TLDR
The results indicate that mutations in AIP are not identified in sporadic pituitary adenomas of Canadian patients, and this rare mechanism of pituitarian tumorigenesis appears to be unique to the initial Finnish and Italian families described. Expand
Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas.
CONTEXT Limited screening suggests that three germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene are not involved in sporadic pituitary tumorigenesis. Multiple novelExpand
Aryl hydrocarbon receptor interacting protein variants in sporadic pituitary adenomas.
TLDR
The three specific AIP germline mutations do not play an important role in pathogenesis of sporadic pituitary tumors in U.S. patients and the main outcome measure was the prevalence of these specific germ line mutations in affected individuals. Expand
Anterior pituitary adenomas: inherited syndromes, novel genes and molecular pathways
TLDR
The most recent data on the molecular pathogenesis of pituitary adenomas are presented and some of the most recent findings from the laboratory are discussed. Expand
A novel germline mutation in the aryl hydrocarbon receptor-interacting protein (Aip) gene in an Italian family with gigantism
TLDR
A new AIP germline mutation predicted to produce a truncated AIP protein, lacking its biological properties due to the disruption of the C-terminus binding sites for both the chaperones and the client proteins of AIP. Expand
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