|
Multiple Endocrine Neoplasia Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pituitary adenomas (PAs) may rarely occur in well-defined hereditary conditions, like multiple endocrine neoplasia type 1 (MEN1) syndrome and familial isolated pituitary adenoma (FIPA) associated with germline mutations in MEN1 and AIP, respectively.
|
30630164 |
2019 |
|
Multiple Endocrine Neoplasia Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our finding of p.Arg16His AIP in one of the 95 controls and its co-occurrence with MEN1 in a patient suggests that it is more likely that this variant is a rare polymorphism, unrelated to MEN1 pathogenesis.
|
29848728 |
2018 |
|
Multiple Endocrine Neoplasia Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two AIP variants of unknown significance were detected in two MEN1-negative S-MEN1.
|
29036195 |
2017 |
|
Multiple Endocrine Neoplasia Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
The genetic alterations responsible for the formation of familial pituitary syndromes include the MEN1 gene, responsible for about 80% of MEN1 cases, the regulatory subunit of the protein kinase A, PRKAR1A, responsible for about 70% of Carney complex cases, and AIP, the gene coding the aryl hydrocarbon receptor interacting protein, responsible for about 20% of FIPA cases.
|
25248598 |
2014 |
|
Multiple Endocrine Neoplasia Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to perform a genetic screening in our cohort or patients with suspected MEN1 syndrome by direct sequencing analysis of MEN1, CDKN1B and AIP, and dosage analysis of MEN1 and AIP.
|
22026581 |
2012 |
|
Multiple Endocrine Neoplasia Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Four patients had an identified genetic mutation (McCune-Albright syndrome: n = 1; MEN1: n = 1; AIP: n = 2); the remaining three cases were sporadic.
|
22024364 |
2011 |
|
Multiple Endocrine Neoplasia Type 1
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Here we demonstrate that these aberrations are associated with concomitant deletions of AIP and MEN1, tumor suppressor genes that are located 3 Mb apart and that underlie the hereditary syndromes pituitary adenoma predisposition and multiple endocrine neoplasia type I. MEN1 and AIP displayed a low expression in hibernomas whereas the expression of genes up-regulated in brown fat--PPARA, PPARG, PPARGC1A, and UCP1--was high.
|
21078971 |
2010 |
|
Multiple Endocrine Neoplasia Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This editorial summarizes some of these advances: the identification of the AIP, and the PDE11A and PDE8B genes by genome-wide association (GWA) studies as predisposing genes for pituitary and adrenal tumours, respectively, the discovery of p27 mutations in a new form of MEN similar to MEN type 1 (MEN 1) that is now known as MEN 4, the molecular investigations of Carney triad (CT), a disorder that associates paragangliomas (PGLs), gastrointestinal stromal tumour (GISTs), and pulmonary chondromas (PCH) with pheochromocytomas and adrenocortical adenomas and other lesions, and the molecular elucidation of the association of GISTs with paragangliomas (Carney-Stratakis syndrome) that is now known to be because of SDHB, SDHC, and SDHD mutations.
|
19522821 |
2009 |
|
Multiple Endocrine Neoplasia Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although we have a limited number of patients in our cohort, our data is consistent with others in the literature suggesting that CDKN1B and AIP mutations are extremely rare in MEN1 syndrome.
|
18710468 |
2009 |
|
Multiple Endocrine Neoplasia Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic screening for germline mutation of the MEN-1, the gene encoding the protein kinase A (PKA) type 1 alpha regulatory subunit (R1 alpha) (PRKAR1alpha) and AIP gene was negative in 2 affected members.
|
17993773 |
2007 |