Article
Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations.
Clinical endocrinology - 1 Feb 2009
Igreja Susana, Chahal Harvinder S, Akker Scott A, Gueorguiev Maria, Popovic Vera, Damjanovic Svetozar, Burman Pia, Wass John A, Quinton Richard, Grossman Ashley B, Korbonits Márta
Abstract excerpt
OBJECTIVE: Germline mutations in the MEN1 gene predispose to the multiple endocrine neoplasia (MEN1) syndrome; however, approximately 10-20% of patients with MEN1 do not have a detectable MEN1 mutation. A rat strain with multiple endocrine tumours, a phenotypic overlap of both MEN1 and MEN2, has been reported to have a homozygous germline p27 (CDKN1B) mutation. Recently, two MEN1 mutation-negative MEN1 syndrome...
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