PMID- 9167950 OWN - NLM STAT- MEDLINE DCOM- 19970714 LR - 20180215 IS - 0301-0163 (Print) IS - 0301-0163 (Linking) VI - 47 IP - 4-6 DP - 1997 TI - Multiple endocrine neoplasia type 1 and the search for the genetic trigger. PG - 179-84 AB - Multiple endocrine neoplasia type 1 (MEN-1) is characterized by primary hyperparathyroidism, endocrine pancreatic-duodenal and anterior pituitary tumors. The diagnosis is challenging and involves the exclusion of other endocrine neoplasia syndromes with overlapping features. The predisposing genetic defect was assigned to chromosomal region 11q13 based on linkage analysis. Combined tumor and pedigree genotype analysis showed that allele losses in pancreatic, parathyroid and pituitary tumors eliminated the wild-type allele at the 11q13 loci, suggesting inactivation of a tumor suppressor gene in this region. A 5-Mb integrated map of the region has been established by the European consortium on MEN-1. Based on this mapping the critical interval was restricted to 2 Mb, a region within which eight candidate genes are located. FAU - Farnebo, F AU - Farnebo F AD - Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden. FAU - Jarhult, J AU - Jarhult J FAU - Farnebo, L O AU - Farnebo LO FAU - Nilsson, O AU - Nilsson O FAU - Teh, B T AU - Teh BT FAU - Lagercrantz, J AU - Lagercrantz J FAU - Weber, G AU - Weber G FAU - Sandelin, K AU - Sandelin K FAU - Larsson, C AU - Larsson C LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Review PL - Switzerland TA - Horm Res JT - Hormone research JID - 0366126 SB - IM MH - Chromosome Mapping MH - Chromosomes, Human, Pair 11 MH - Diagnosis, Differential MH - Genes, Tumor Suppressor MH - Humans MH - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics MH - Pedigree RF - 23 EDAT- 1997/01/01 00:00 MHDA- 1997/01/01 00:01 CRDT- 1997/01/01 00:00 PHST- 1997/01/01 00:00 [pubmed] PHST- 1997/01/01 00:01 [medline] PHST- 1997/01/01 00:00 [entrez] AID - 10.1159/000185462 [doi] PST - ppublish SO - Horm Res. 1997;47(4-6):179-84. doi: 10.1159/000185462.