PMID- 23652676
OWN - NLM
STAT- MEDLINE
DCOM- 20131216
LR  - 20130508
IS  - 1662-3762 (Electronic)
IS  - 0301-3073 (Linking)
VI  - 41
DP  - 2013
TI  - Genetic defects associated with familial and sporadic hyperparathyroidism.
PG  - 149-65
LID - 10.1159/000345675 [doi]
AB  - Primary hyperparathyroidism (PHPT) occurs sporadically, but occasionally it may 
      be a feature of a familial condition, such as multiple endocrine neoplasia type 1 
      (MEN1), MEN2A, or the HPT-jaw tumor syndrome (HPT-JT), and familial hypocalciuric 
      hypercalcemia/neonatal severe hyperparathyroidism (FHH/NSHPT). PHPT may also 
      occur as familial isolated hyperparathyroidism (FIHP), and has been observed as a 
      consequence of mutations in the CDKN1B gene (MEN4). Tumorigenesis in these 
      conditions may be the result of protooncogene activation (e.g. RET in MEN2) or 
      two-hit losses of a tumor suppressor (e.g. MEN1, HPT-JT). In patients with MEN1, 
      HPT-JT or FHH/NSHPT, the hyperparathyroidism manifests at a younger age and 
      affects both sexes equally. In MEN1, mutations of the MEN1 gene also cause 
      enteropancreatic and anterior pituitary tumors. In MEN2, activating mutations in 
      the RET protooncogene also cause medullary thyroid carcinoma and 
      pheochromocytoma. In HPT-JT, mutations of CDC73/HRPT2 are associated with 
      parathyroid carcinoma, but tumors of the kidneys and uterus are additional 
      features. In some FIHP families, a CASR mutation may be identified. In 
      parathyroid carcinoma, even if sporadic, molecular diagnostics for CDC73/HRPT2 
      should be considered, as it should be for younger patients. Further exploration 
      of these hereditary syndromes may shed light on the molecular mechanisms giving 
      rise to nonhereditary PHPT.
CI  - Copyright (c) 2013 S. Karger AG, Basel.
FAU - Hendy, Geoffrey N
AU  - Hendy GN
AD  - Departments of Medicine, Physiology and Human Genetics, McGill University, and 
      Calcium Research Laboratory and Hormones and Cancer Research Unit, Royal Victoria 
      Hospital, Montreal, Quebec, Canada. geoffrey.hendy @ mcgill.ca
FAU - Cole, David E C
AU  - Cole DE
LA  - eng
PT  - Journal Article
DEP - 20130319
PL  - Switzerland
TA  - Front Horm Res
JT  - Frontiers of hormone research
JID - 0320246
RN  - 0 (CCND1 protein, human)
RN  - 0 (CDC73 protein, human)
RN  - 0 (CDKN1B protein, human)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 0 (Tumor Suppressor Proteins)
RN  - 136601-57-5 (Cyclin D1)
RN  - 147604-94-2 (Cyclin-Dependent Kinase Inhibitor p27)
RN  - EC 2.7.10.1 (Proto-Oncogene Proteins c-ret)
RN  - EC 2.7.10.1 (RET protein, human)
RN  - Hypocalciuric hypercalcemia, familial, type 1
SB  - IM
MH  - Cyclin D1/genetics
MH  - Cyclin-Dependent Kinase Inhibitor p27/genetics
MH  - Female
MH  - Humans
MH  - Hypercalcemia/congenital
MH  - Hyperparathyroidism, Primary/*genetics
MH  - Infant, Newborn
MH  - Infant, Newborn, Diseases/genetics
MH  - Jaw Neoplasms/genetics
MH  - Loss of Heterozygosity
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/complications/genetics
MH  - Multiple Endocrine Neoplasia Type 2a/complications/genetics
MH  - Parathyroid Neoplasms/*genetics
MH  - Proto-Oncogene Proteins/genetics/physiology
MH  - Proto-Oncogene Proteins c-ret/genetics
MH  - Receptors, Calcium-Sensing/genetics
MH  - Tumor Suppressor Proteins/genetics
EDAT- 2013/05/09 06:00
MHDA- 2013/12/18 06:00
CRDT- 2013/05/09 06:00
PHST- 2013/05/09 06:00 [entrez]
PHST- 2013/05/09 06:00 [pubmed]
PHST- 2013/12/18 06:00 [medline]
AID - 000345675 [pii]
AID - 10.1159/000345675 [doi]
PST - ppublish
SO  - Front Horm Res. 2013;41:149-65. doi: 10.1159/000345675. Epub 2013 Mar 19.