PMID- 21370144 OWN - NLM STAT- PubMed-not-MEDLINE DCOM- 20121002 LR - 20110303 IS - 1543-1894 (Print) IS - 1543-1894 (Linking) VI - 49 DP - 2001 TI - Direct molecular diagnosis of multiple endocrine neoplasia type 1. PG - 227-42 LID - 10.1385/1-59259-081-0:227 [doi] AB - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized by the predisposition to develop both peptic ulcer disease and a wide variety of endocrine tumors usually in adolescence and adulthood. Specifically, hyperplasia and/or tumors (most often adenomas) of the parathyroid, pancreatic islet cells, anterior pituitary, and adrenal cortical glands are classically described in affected individuals who have MEN1 (1,2). MEN1 is a highly penetrant disorder whose onset is generally during adult life with the occurrence of at least one, but most often more than one, of the aforementioned tumors. The age-related penetrance of this disorder based on analysis in 63 unrelated kindreds is 7, 52, 87, 98, 99, and 100% by 10, 20, 30, 40, 50, and 60 yr, respectively (3). The disorder is estimated to occur in approx 1 in 30,000 to 1 in 50,000 individuals. Most cases are associated with a positive family history of the disorder, but new germline mutations have been identified in a small percentage of individuals having a negative family history of the disorder but classic features of MEN1 (3-7). FAU - Petty, E M AU - Petty EM AD - Department of Human Genetics, University of Michigan, Ann Arbor, MI. FAU - Glynn, M AU - Glynn M FAU - Bale, A E AU - Bale AE LA - eng PT - Journal Article PL - United States TA - Methods Mol Med JT - Methods in molecular medicine JID - 101123138 EDAT- 2001/01/01 00:00 MHDA- 2001/01/01 00:01 CRDT- 2011/03/04 06:00 PHST- 2011/03/04 06:00 [entrez] PHST- 2001/01/01 00:00 [pubmed] PHST- 2001/01/01 00:01 [medline] AID - 10.1385/1-59259-081-0:227 [doi] PST - ppublish SO - Methods Mol Med. 2001;49:227-42. doi: 10.1385/1-59259-081-0:227.