PMID- 7915525 OWN - NLM STAT- MEDLINE DCOM- 19940930 LR - 20190920 IS - 0785-3890 (Print) IS - 0785-3890 (Linking) VI - 26 IP - 3 DP - 1994 Jun TI - Family screening in multiple endocrine neoplasia type 1 (MEN 1). PG - 191-8 AB - Multiple endocrine neoplasia type 1 is an autosomal dominantly inherited disorder predisposing to development of neoplastic lesions in the parathyroid glands, the neuro-endocrine pancreas-duodenum and the anterior pituitary. The genetic defect was mapped to the centromeric region of the long arm of chromosome 11, based on studies of somatic deletions in MEN 1-associated tumours and linkage analysis in affected families. Combined family and tumour analyses have shown that tumourigenesis in MEN 1 involves loss of the wild type chromosome, indicating that the putative MEN 1 gene is a tumour suppressor gene. Based on results from linkage analysis in more than 40 MEN 1 families, presymptomatic testing for MEN 1 using DNA polymorphisms can now be performed with high accuracy. Hence, biochemical screening programmes can focus on individuals at risk, in order to identify early signs of tumour development. FAU - Larsson, C AU - Larsson C AD - Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden. FAU - Nordenskjold, M AU - Nordenskjold M LA - eng PT - Journal Article PL - England TA - Ann Med JT - Annals of medicine JID - 8906388 RN - 0 (DNA, Neoplasm) RN - 0 (Genetic Markers) SB - IM GS - MEN 1 MH - Chromosomes, Human, Pair 11 MH - DNA, Neoplasm/genetics MH - Genetic Linkage MH - Genetic Markers MH - Humans MH - Multiple Endocrine Neoplasia/diagnosis/*genetics MH - Pedigree MH - Polymorphism, Genetic EDAT- 1994/06/01 00:00 MHDA- 1994/06/01 00:01 CRDT- 1994/06/01 00:00 PHST- 1994/06/01 00:00 [pubmed] PHST- 1994/06/01 00:01 [medline] PHST- 1994/06/01 00:00 [entrez] AID - 10.3109/07853899409147889 [doi] PST - ppublish SO - Ann Med. 1994 Jun;26(3):191-8. doi: 10.3109/07853899409147889.