Journal
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Volume 93, Issue 10, Pages 4146-4151Publisher
ENDOCRINE SOC
DOI: 10.1210/jc.2008-1003
Keywords
-
Categories
Funding
- Academy of Finland (the Center of Excellence in Translational Genome-Scale Biology)
- Sigrid Juselius Foundation
- Cancer Society of Finland
- Association for International Cancer Research (A.K.)
- Jalmari and Rauha Ahokas Foundation
- Paulo Foundation
- Ida Montin Foundation
- Maud Kuistila Memorial Foundation
- Alexander S. Onassis Public Benefit Foundation
- Helsinki Biomedical Graduate School
Ask authors/readers for more resources
Context: Germline mutations in AIP have been recently shown to cause pituitary adenoma predisposition (PAP). Subsequently, many intragenic germline mutations have been reported, both in familial and in sporadic settings. Objective: Our objective was to evaluate the possible contribution of large genomic germline AIP deletions, an important mutation type in tumor predisposition syndromes, in PAP. Design: Here, we applied the multiplex ligation-dependent probe amplification assay to examine whether large genomic AIP or MEN1 alterations account for a subset of PAP cases. Patients: The study was performed on familial and sporadic pituitary adenoma cases of European origin, which had previously tested negative for germline AIP and MEN1 mutations by sequencing. Results: Two of 21 pituitary adenoma families (9.5%) were found to harbor an AIP deletion. No copy number changes were detected among 67 sporadic pituitary adenoma patients. No MEN1 deletions were found. Conclusions: The present study shows that large genomic AIP deletions account for a subset of PAP. Therefore, in suspected PAP cases undergoing counseling and AIP genetic testing, multiplex ligation-dependent probe amplification could be considered if direct sequencing does not identify a mutation.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available