title: Family screening in multiple endocrine neoplasia type 1 (MEN 1).
abstract: 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.
authors.affiliation: Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Larsson
authors.forename: M
authors.initials: M
authors.lastname: Nordenskjöld
mesh_terms: D002880:Chromosomes, Human, Pair 11; D004273:DNA, Neoplasm / Q000235:genetics; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D009377:Multiple Endocrine Neoplasia / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D004273:DNA, Neoplasm; D005819:Genetic Markers