PMID- 23489357
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20130318
LR  - 20130315
IS  - 1753-0059 (Print)
IS  - 1753-0059 (Linking)
VI  - 1
IP  - 3
DP  - 2007 Nov
TI  - Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes.
PG  - 377-92
LID - 10.1517/17530059.1.3.377 [doi]
AB  - In the last few years, causative genes have been identified for most of the 
      familial hyperparathyroidism conditions. Germline mutations in the tumour 
      suppressors multiple endocrine neoplasia type 1 (MEN1) and hyperparathyroidism 2 
      (HRPT2) provide a molecular diagnosis of multiple endocrine neoplasia type 1 and 
      hyperparathyroidism jaw tumour syndrome, respectively. Germline mutations in the 
      proto-oncogene RET (rearranged during transfection) provide a molecular diagnosis 
      of multiple endocrine neoplasia type 2. Germline mutations of both MEN1 and, less 
      frequently HRPT2, have been found in familial isolated hyperparathyroidism. A 
      molecular diagnosis can now be incorporated into the management of patients with 
      these conditions, however, the ease of diagnostics and value of genetic 
      information in the context of clinical screening and early surgical intervention 
      varies between these disorders. This review focuses on familial 
      hyperparathyroidism and its known causative genes in the setting of neoplastic 
      syndromes, with particular discussion of recent developments in the molecular 
      diagnosis of parathyroid carcinoma.
FAU - Marsh, Deborah J
AU  - Marsh DJ
AD  - University of Sydney, Kolling Institute of Medical Research, Royal North Shore 
      Hospital, St Leonards, NSW 2065, Australia +61 2 9926 8486 ; +61 2 9926 8484 ; 
      dmarsh@med.usyd.edu.au.
FAU - Hahn, Michael A
AU  - Hahn MA
FAU - Howell, Viive M
AU  - Howell VM
FAU - Gill, Anthony J
AU  - Gill AJ
LA  - eng
PT  - Journal Article
PL  - England
TA  - Expert Opin Med Diagn
JT  - Expert opinion on medical diagnostics
JID - 101392201
EDAT- 2007/11/01 00:00
MHDA- 2007/11/01 00:01
CRDT- 2013/03/16 06:00
PHST- 2013/03/16 06:00 [entrez]
PHST- 2007/11/01 00:00 [pubmed]
PHST- 2007/11/01 00:01 [medline]
AID - 10.1517/17530059.1.3.377 [doi]
PST - ppublish
SO  - Expert Opin Med Diagn. 2007 Nov;1(3):377-92. doi: 10.1517/17530059.1.3.377.