PMID- 9435804 OWN - NLM STAT- MEDLINE DCOM- 19980128 LR - 20091111 IS - 0007-4551 (Print) IS - 0007-4551 (Linking) VI - 84 IP - 10 DP - 1997 Oct TI - [Identification of the gene associated with type 1 multiple endocrine neoplasia (NEM 1) susceptibility: a new pathway in the pathogenesis of neuro-endocrine tumors]. PG - 993-5 AB - Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant inherited disorder characterized by tumors of the parathyroids, endocrine pancreas, anterior pituitary, thymic, bronchic and digestive neuro-endocrine tissues and adrenal glands. The MEN1 gene has been recently cloned by two independent groups. The function of the protein encoded by the MEN1 gene is unknown until now. Germline mutations associated to the diseases in MEN1 families are distributed throughout all the open reading frame, suggesting the absence of founder effect. No consistent genotype-phenotype correlations have been yet recognized. Further studies on the functional domains of the MEN1 encoded protein could be useful to relate clinical expression of the disease with each type of mutation. FAU - Calender, A AU - Calender A AD - Unite de genetique, Pavillon E, Hopital Edouard-Herriot, Lyon, France. LA - fre PT - English Abstract PT - Journal Article TT - L'identification du gene associe a la predisposition aux neoplasies endocriniennes multiples de type 1 (NEM 1): une nouvelle voie de recherche dans la physiopathogenie des tumeurs neuro-endocrines. PL - France TA - Bull Cancer JT - Bulletin du cancer JID - 0072416 RN - 0 (Neoplasm Proteins) SB - IM MH - Chromosomes, Human, Pair 11/genetics MH - Disease Susceptibility MH - Gene Expression MH - Humans MH - Molecular Sequence Data MH - Multiple Endocrine Neoplasia Type 1/*genetics MH - Mutagenesis MH - Neoplasm Proteins/*genetics EDAT- 1998/01/22 00:00 MHDA- 1998/01/22 00:01 CRDT- 1998/01/22 00:00 PHST- 1998/01/22 00:00 [pubmed] PHST- 1998/01/22 00:01 [medline] PHST- 1998/01/22 00:00 [entrez] PST - ppublish SO - Bull Cancer. 1997 Oct;84(10):993-5.