scholarly journals Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers

2007 ◽  
Vol 96 (2) ◽  
pp. 352-356 ◽  
Author(s):  
M Georgitsi ◽  
A Karhu ◽  
R Winqvist ◽  
T Visakorpi ◽  
K Waltering ◽  
...  
Keyword(s):  
Aryl Hydrocarbon Receptor ◽  
Mutation Analysis ◽  
Interacting Protein ◽  
Aryl Hydrocarbon ◽  
Prostate Cancers ◽  
Aip Gene

Aryl hydrocarbon receptor interacting protein(AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas

2008 ◽  
Vol 69 (4) ◽  
pp. 621-627 ◽  
Author(s):  
Marianthi Georgitsi ◽  
Ernesto De Menis ◽  
Salvatore Cannavò ◽  
Markus J. Mäkinen ◽  
Karoliina Tuppurainen ◽  
...  
Keyword(s):  
Aryl Hydrocarbon Receptor ◽  
Children And Adolescents ◽  
Gene Mutation ◽  
Mutation Analysis ◽  
Pituitary Adenomas ◽  
Interacting Protein ◽  
Aryl Hydrocarbon ◽  
Aip Gene ◽  
Gene Mutation Analysis

Familial acromegaly due to aryl hydrocarbon receptor-interacting protein (AIP) gene mutation in a Turkish cohort

Pituitary ◽  
2013 ◽  
Vol 17 (3) ◽  
pp. 220-226 ◽  
Author(s):  
Mutlu Niyazoglu ◽  
Muge Sayitoglu ◽  
Sinem Firtina ◽  
Esra Hatipoglu ◽  
Nurperi Gazioglu ◽  
...  
Keyword(s):  
Aryl Hydrocarbon Receptor ◽  
Gene Mutation ◽  
Interacting Protein ◽  
Aryl Hydrocarbon ◽  
Aip Gene

scholarly journals Aryl Hydrocarbon Receptor-Interacting Protein Gene Mutations in Familial Isolated Pituitary Adenomas: Analysis in 73 Families

2007 ◽  
Vol 92 (5) ◽  
pp. 1891-1896 ◽  
Author(s):  
Adrian F. Daly ◽  
Jean-François Vanbellinghen ◽  
Sok Kean Khoo ◽  
Marie-Lise Jaffrain-Rea ◽  
Luciana A. Naves ◽  
...  
Keyword(s):  
Aryl Hydrocarbon Receptor ◽  
Outcome Measures ◽  
Pituitary Adenomas ◽  
Collaborative Study ◽  
Gene Mutations ◽  
Pituitary Tumors ◽  
Interacting Protein ◽  
Aryl Hydrocarbon ◽  
Aip Gene ◽  
The Impact

Abstract Context: An association between germline aryl hydrocarbon receptor-interacting protein (AIP) gene mutations and pituitary adenomas was recently shown. Objective: The objective of the study was to assess the frequency of AIP gene mutations in a large cohort of patients with familial isolated pituitary adenoma (FIPA). Design: This was a multicenter, international, collaborative study. Setting: The study was conducted in 34 university endocrinology and genetics departments in nine countries. Patients: Affected members from each FIPA family were studied. Relatives of patients with AIP mutations underwent AIP sequence analysis. Main Outcome Measures: Presence/absence and description of AIP gene mutations were the main outcome measures. Intervention: There was no intervention. Results: Seventy-three FIPA families were identified, with 156 patients with pituitary adenomas; the FIPA cohort was evenly divided between families with homogeneous and heterogeneous tumor expression. Eleven FIPA families had 10 germline AIP mutations. Nine mutations, R16H, G47_R54del, Q142X, E174frameshift, Q217X, Q239X, K241E, R271W, and Q285frameshift, have not been described previously. Tumors were significantly larger (P = 0.0005) and diagnosed at a younger age (P = 0.0006) in AIP mutation-positive vs. mutation-negative subjects. Somatotropinomas predominated among FIPA families with AIP mutations, but mixed GH/prolactin-secreting tumors, prolactinomas, and nonsecreting adenomas were also noted. Approximately 85% of the FIPA cohort and 50% of those with familial somatotropinomas were negative for AIP mutations. Conclusions: AIP mutations, of which nine new mutations have been described here, occur in approximately 15% of FIPA families. Although pituitary tumors occurring in association with AIP mutations are predominantly somatotropinomas, other tumor types are also seen. Further study of the impact of AIP mutations on protein expression and activity is necessary to elucidate their role in pituitary tumorigenesis in FIPA.

scholarly journals Familial Isolated Pituitary Adenomas (FIPA) and the Pituitary Adenoma Predisposition due to Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene

2013 ◽  
Vol 34 (2) ◽  
pp. 239-277 ◽  
Author(s):  
Albert Beckers ◽  
Lauri A. Aaltonen ◽  
Adrian F. Daly ◽  
Auli Karhu
Keyword(s):  
Pituitary Adenoma ◽  
Aryl Hydrocarbon Receptor ◽  
Pituitary Adenomas ◽  
Pituitary Tumors ◽  
Carney Complex ◽  
Cushing Disease ◽  
Interacting Protein ◽  
Aryl Hydrocarbon ◽  
Serious Disease ◽  
Aip Gene

Abstract Pituitary adenomas are one of the most frequent intracranial tumors and occur with a prevalence of approximately 1:1000 in the developed world. Pituitary adenomas have a serious disease burden, and their management involves neurosurgery, biological therapies, and radiotherapy. Early diagnosis of pituitary tumors while they are smaller may help increase cure rates. Few genetic predictors of pituitary adenoma development exist. Recent years have seen two separate, complimentary advances in inherited pituitary tumor research. The clinical condition of familial isolated pituitary adenomas (FIPA) has been described, which encompasses the familial occurrence of isolated pituitary adenomas outside of the setting of syndromic conditions like multiple endocrine neoplasia type 1 and Carney complex. FIPA families comprise approximately 2% of pituitary adenomas and represent a clinical entity with homogeneous or heterogeneous pituitary adenoma types occurring within the same kindred. The aryl hydrocarbon receptor interacting protein (AIP) gene has been identified as causing a pituitary adenoma predisposition of variable penetrance that accounts for 20% of FIPA families. Germline AIP mutations have been shown to associate with the occurrence of large pituitary adenomas that occur at a young age, predominantly in children/adolescents and young adults. AIP mutations are usually associated with somatotropinomas, but prolactinomas, nonfunctioning pituitary adenomas, Cushing disease, and other infrequent clinical adenoma types can also occur. Gigantism is a particular feature of AIP mutations and occurs in more than one third of affected somatotropinoma patients. Study of pituitary adenoma patients with AIP mutations has demonstrated that these cases raise clinical challenges to successful treatment. Extensive research on the biology of AIP and new advances in mouse Aip knockout models demonstrate multiple pathways by which AIP may contribute to tumorigenesis. This review assesses the current clinical and therapeutic characteristics of more than 200 FIPA families and addresses research findings among AIP mutation-bearing patients in different populations with pituitary adenomas.

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