Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 ( MEN1 )

Autor: R. H. Alexander, Allen M. Spiegel, Michael R. Emmert-Buck, Lance A. Liotta, J L Doppman, Irina A. Lubensky, Siradanahalli C. Guru, A L Burns, Larisa V. Debelenko, S E Olufemi, Christina Heppner, Young Sik Kim, Mary Beth Kester, Sunita K. Agarwal, Stephen J. Marx, Z. Zhuang, Settara C. Chandrasekharappa, Monica C. Skarulis, Pachiappan Manickam, Frank H. Collins
Rok vydání: 1998
Předmět:
Zdroj: Journal of Internal Medicine. 243:447-453
ISSN: 1365-2796
0954-6820
DOI: 10.1046/j.1365-2796.1998.00348.x
Popis: Dideoxyfingerprinting was used to screen for germline and somatic MEN1 mutations. This method, applied to a panel of germline DNA from 15 probands with multiple endocrine neoplasia type 1 (MEN-1), allowed confident discovery of the MEN1 gene. Germline MEN1 mutation has been found in 47 out of 50 probands with familial MEN-1, in 7 out of 8 cases with sporadic MEN-1, and in 1 out of 3 cases with atypical sporadic MEN-1. Germline MEN1 mutation was not found in any of five probands with familial hyperparathyroidism. Somatic MEN1 mutations were found in 7 out of 33 parathyroid tumours not associated with MEN-1. Allowing for repeating mutations, a total of 47 different germline or somatic MEN1 mutations have been identified. Most predict inactivation of the encoded 'menin' protein. supporting expectations that MEN1 is a tumour suppressor gene. The 16 observed missense mutations were distributed across the gene, suggesting that many domains are important to its as yet unknown functions.
Databáze: OpenAIRE
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