title: A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing.
abstract: BACKGROUND
  Mutation testing for the MEN1 gene is a useful method to diagnose and predict individuals who either have or will develop multiple endocrine neoplasia type 1 (MEN 1). Clinical selection criteria to identify patients who should be tested are needed, as mutation analysis is costly and time consuming. This study is a report of an Australian national mutation testing service for the MEN1 gene from referred patients with classical MEN 1 and various MEN 1-like conditions.
  
  
  RESULTS
  All 55 MEN1 mutation positive patients had a family history of hyperparathyroidism, had hyperparathyroidism with one other MEN1 related tumour, or had hyperparathyroidism with multiglandular hyperplasia at a young age. We found 42 separate mutations and six recurring mutations from unrelated families, and evidence for a founder effect in five families with the same mutation.
  
  
  CONCLUSIONS
  Our results indicate that mutations in genes other than MEN1 may cause familial isolated hyperparathyroidism and familial isolated pituitary tumours.
  
  
  CONCLUSIONS
  We therefore suggest that routine germline MEN1 mutation testing of all cases of "classical" MEN1, familial hyperparathyroidism, and sporadic hyperparathyroidism with one other MEN1 related condition is justified by national testing services. We do not recommend routine sequencing of the promoter region between nucleotides 1234 and 1758 (Genbank accession no. U93237) as we could not detect any sequence variations within this region in any familial or sporadic cases of MEN1 related conditions lacking a MEN1 mutation. We also suggest that testing be considered for patients <30 years old with sporadic hyperparathyroidism and multigland hyperplasia.
authors.affiliation: Department of Diabetes and Endocrinology, Princess Alexandra Hospital, Ipswich Rd, Woolloongabba, Brisbane 4102, Australia. jcardinal@soms.uq.edu.au
authors.forename: J W
authors.initials: JW
authors.lastname: Cardinal
authors.forename: L
authors.initials: L
authors.lastname: Bergman
authors.forename: N
authors.initials: N
authors.lastname: Hayward
authors.forename: A
authors.initials: A
authors.lastname: Sweet
authors.forename: J
authors.initials: J
authors.lastname: Warner
authors.forename: L
authors.initials: L
authors.lastname: Marks
authors.forename: D
authors.initials: D
authors.lastname: Learoyd
authors.forename: T
authors.initials: T
authors.lastname: Dwight
authors.forename: B
authors.initials: B
authors.lastname: Robinson
authors.forename: M
authors.initials: M
authors.lastname: Epstein
authors.forename: M
authors.initials: M
authors.lastname: Smith
authors.forename: B T
authors.initials: BT
authors.lastname: Teh
authors.forename: D P
authors.initials: DP
authors.lastname: Cameron
authors.forename: J B
authors.initials: JB
authors.lastname: Prins
mesh_terms: D001315:Australia; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D004252:DNA Mutational Analysis / Q000379:methods*; D018095:Germ-Line Mutation; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics; D008969:Molecular Sequence Data; D018761:Multiple Endocrine Neoplasia Type 1 / Q000145:classification / Q000235:genetics*; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins; D004247:DNA