PMID- 29302811
OWN - NLM
STAT- MEDLINE
DCOM- 20190305
LR  - 20190305
IS  - 1573-7292 (Electronic)
IS  - 1389-9600 (Linking)
VI  - 17
IP  - 4
DP  - 2018 Oct
TI  - Gene expression analysis in peripheral blood cells of patients with hereditary 
      leiomyomatosis and renal cell cancer syndrome (HLRCC): identification of NRF2 
      pathway activation.
PG  - 587-599
LID - 10.1007/s10689-017-0068-9 [doi]
AB  - Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare 
      disease that is inherited in an autosomal dominant manner. Affected patients may 
      develop from cutaneous and uterine leiomyomas to type 2 papillary renal cell 
      carcinoma (Schmidt and Linehan, Int J Nephrol Renovasc Dis 7:253-260, 2014). 
      HLRCC is caused by germline mutations in the FH gene, which produces the fumarate 
      hydratase protein that participates in the tricarboxylic acid cycle during the 
      conversion of fumarate to malate. In FH-deficient cells, high concentrations of 
      fumarate lead to a series of intricate events, which seem to be responsible for 
      the malignant transformation (Yang et al., J Clin Invest 123(9):3652-3658, 2013) 
      (Bardella et al., J Pathol 225(1):4-11, 2011). Among these events, one that is 
      gaining attention is the pathological activation of the nuclear factor erythroid 
      2-related factor 2 (NRF2) pathway, which has been found in several types of 
      cancer and is implicated in the expression of genes associated with antioxidant 
      responses (Linehan and Rouault, Clin Cancer Res 19(13):3345-3352, 2013). In this 
      article, we present the results of a gene expression analysis performed on 
      peripheral blood cells from patients with HLRCC syndrome, where upregulation of 
      numerous NRF2 targets and the differential expression of two key genes, Jun 
      dimerization protein 2 (JDP2) and Phosphoglycerate mutase family member 5 
      (PGAM5), which are involved in the control of this pathway, was observed.
FAU - Arenas Valencia, Carolina
AU  - Arenas Valencia C
AUID- ORCID: 0000-0003-4423-1233
AD  - Department of Morphology, Institute of Human Genetics, Faculty of Medicine, 
      Universidad Nacional de Colombia, 53rd Street # 37-13, Building 426, 1st Floor, 
      Bogota, Colombia. carenasv@unal.edu.co.
FAU - Lopez Kleine, Liliana
AU  - Lopez Kleine L
AD  - Department of Statistics, Faculty of Science, Universidad Nacional de Colombia, 
      Avenue Street 30 # 45-03, Building 405, Office 11, Bogota, Colombia.
FAU - Pinzon Velasco, Andres M
AU  - Pinzon Velasco AM
AD  - Department of Morphology, Institute of Human Genetics, Faculty of Medicine, 
      Universidad Nacional de Colombia, 53rd Street # 37-13, Building 426, 1st Floor, 
      Bogota, Colombia.
FAU - Cardona Barreto, Andrea Y
AU  - Cardona Barreto AY
AD  - Department of Morphology, Institute of Human Genetics, Faculty of Medicine, 
      Universidad Nacional de Colombia, 53rd Street # 37-13, Building 426, 1st Floor, 
      Bogota, Colombia.
FAU - Arteaga Diaz, Clara E
AU  - Arteaga Diaz CE
AD  - Department of Morphology, Institute of Human Genetics, Faculty of Medicine, 
      Universidad Nacional de Colombia, 53rd Street # 37-13, Building 426, 1st Floor, 
      Bogota, Colombia.
LA  - eng
PT  - Journal Article
PL  - Netherlands
TA  - Fam Cancer
JT  - Familial cancer
JID - 100898211
RN  - 0 (JDP2 protein, human)
RN  - 0 (Mitochondrial Proteins)
RN  - 0 (NF-E2-Related Factor 2)
RN  - 0 (NFE2L2 protein, human)
RN  - 0 (Repressor Proteins)
RN  - EC 3.1.3.16 (PGAM5 protein, human)
RN  - EC 3.1.3.16 (Phosphoprotein Phosphatases)
RN  - Hereditary leiomyomatosis and renal cell cancer
SB  - IM
MH  - Adult
MH  - Case-Control Studies
MH  - *Gene Expression Regulation, Neoplastic
MH  - Humans
MH  - Leiomyomatosis/*genetics
MH  - Leukocytes, Mononuclear/physiology
MH  - Male
MH  - Mitochondrial Proteins/genetics
MH  - NF-E2-Related Factor 2/*genetics/metabolism
MH  - Neoplastic Syndromes, Hereditary/*genetics
MH  - Phosphoprotein Phosphatases/genetics
MH  - Repressor Proteins/genetics
MH  - Skin Neoplasms/*genetics
MH  - Uterine Neoplasms/*genetics
OTO - NOTNLM
OT  - FH
OT  - Family renal cell cancer
OT  - HLRCC
OT  - JDP2
OT  - NRF2
OT  - PGAM5
OT  - Type 2 papillary renal cell carcinoma
EDAT- 2018/01/06 06:00
MHDA- 2019/03/06 06:00
CRDT- 2018/01/06 06:00
PHST- 2018/01/06 06:00 [pubmed]
PHST- 2019/03/06 06:00 [medline]
PHST- 2018/01/06 06:00 [entrez]
AID - 10.1007/s10689-017-0068-9 [pii]
AID - 10.1007/s10689-017-0068-9 [doi]
PST - ppublish
SO  - Fam Cancer. 2018 Oct;17(4):587-599. doi: 10.1007/s10689-017-0068-9.