PMID- 20833339
OWN - NLM
STAT- MEDLINE
DCOM- 20110110
LR  - 20211020
IS  - 1878-1594 (Electronic)
IS  - 1521-690X (Print)
IS  - 1521-690X (Linking)
VI  - 24
IP  - 3
DP  - 2010 Jun
TI  - Clinical and molecular genetics of parathyroid neoplasms.
PG  - 491-502
LID - 10.1016/j.beem.2010.01.003 [doi]
AB  - Primary hyperparathyroidism (HPT) results from the excessive secretion of 
      parathyroid hormone from parathyroid tumours. While most HPT is sporadic, it is 
      associated with a familial syndrome in a minority of cases. The study of these 
      syndromes has helped define the pathophysiology of both familial and sporadic 
      parathyroid neoplasms. Investigation of kindred with multiple endocrine neoplasia 
      type 1 (MEN1) and the hyperparathyroidism-jaw tumour syndrome (HPT-JT) led to the 
      discovery of the tumour suppressor genes MEN1 and HRPT2. We now recognise that 
      somatic mutations in MEN1 and HRPT2 tumour suppressor genes are frequent events 
      in sporadic parathyroid adenomas and carcinomas, respectively. Parathyroid 
      tumours in the MEN2A syndrome result from mutational activation of the RET 
      oncogene. The CCND1/PRAD1 oncogene was discovered by analysis of sporadic 
      parathyroid tumours. Studies of familial isolated HPT and analysis of chromosomal 
      loss and gain in parathyroid tumours suggest that other genes relevant to 
      parathyroid neoplasia await identification.
CI  - Published by Elsevier Ltd.
FAU - Sharretts, John M
AU  - Sharretts JM
AD  - Metabolic Diseases Branch, National Institute of Diabetes and Digestive and 
      Kidney Diseases, National Institutes of Health, Bldg. 10 Room 8C-101, 10 Center 
      Dr. MSC 1752 Bethesda, MD 20892-1752, USA. sharrettsj@niddk.nih.gov
FAU - Simonds, William F
AU  - Simonds WF
LA  - eng
GR  - Z01 DK043012-06/ImNIH/Intramural NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Intramural
PT  - Review
PL  - Netherlands
TA  - Best Pract Res Clin Endocrinol Metab
JT  - Best practice & research. Clinical endocrinology & metabolism
JID - 101120682
RN  - 0 (CDC73 protein, human)
RN  - 0 (Parathyroid Hormone)
RN  - 0 (Tumor Suppressor Proteins)
RN  - EC 2.7.10.1 (Proto-Oncogene Proteins c-ret)
RN  - EC 2.7.10.1 (RET protein, human)
SB  - IM
MH  - Female
MH  - Humans
MH  - Hyperparathyroidism, Primary/*genetics/pathology
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/genetics/pathology
MH  - Parathyroid Hormone/genetics
MH  - Parathyroid Neoplasms/*genetics/pathology
MH  - Proto-Oncogene Proteins c-ret/genetics
MH  - Tumor Suppressor Proteins/genetics
PMC - PMC2939004
MID - NIHMS172037
EDAT- 2010/09/14 06:00
MHDA- 2011/01/11 06:00
PMCR- 2011/06/01
CRDT- 2010/09/14 06:00
PHST- 2010/09/14 06:00 [entrez]
PHST- 2010/09/14 06:00 [pubmed]
PHST- 2011/01/11 06:00 [medline]
PHST- 2011/06/01 00:00 [pmc-release]
AID - S1521-690X(10)00020-5 [pii]
AID - 10.1016/j.beem.2010.01.003 [doi]
PST - ppublish
SO  - Best Pract Res Clin Endocrinol Metab. 2010 Jun;24(3):491-502. doi: 
      10.1016/j.beem.2010.01.003.