Article
[Multiple endocrine neoplasia type 1 variants and phenocopies].
Terapevticheskii arkhiv - 1 Jan 2014
Mamedova E O, Mokrysheva N G, Przhiialkovskaia E G, Pigarova E A, Rozhinskaia L Ia, Tiul'pakov A N
Abstract excerpt
Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary disease due to a mutation in the MENI tumor suppressor gene. The risk of the disease in first-degree relatives of MEN1 mutation carriers is 50%. MENI gene mutations are not identified in 10-30% of familiar MEN1 patients and in 60-80% of sporadic MEN1 cases, which can be explained by mutations in the noncoding regions of the MEN1...
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