Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

FLCN (folliculin gene)

Identity

Other namesBHD
FLCL
Folliculin
HGNC (Hugo) FLCN
LocusID (NCBI) 201163
Location 17p11.2
Location_base_pair Starts at 17124485 and ends at 17140502 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Note Putative tumor suppressor gene

DNA/RNA

 
Description The FLCN/BHD gene consists of a 3717 nt mRNA (using NM_144997 derived from BQ423946 and AF517523, the coding sequence extends from nt499 to nt2238) and contains 14 coding exons. The initiation codon is located within exon 4.
Transcription Northern blot analysis revealed a 3.8 kb FLCN/BHD mRNA transcript expressed in most tissues
Alternate splicing of FLCN/BHD results in two transcript variants encoding two different isoforms. Transcript 1 is the full-length isoform. Transcript 2 has a shorter and distinct C-terminus from Transcript 1.

Protein

Description The BHD protein, folliculin (FLCN), consists of 579 amino acids with a central glutamic acid-rich coiled-coil domain, one N-glycosylation site and three myristoylation sites, and an estimated molecular weight of 64.5 kDa.
Expression expressed in most major adult tissues, including kidney, lung and skin, which are involved in the BHD phenotype.
Localisation Epitope-tagged FLCN expressed in HEK293 cells localized in both the nucleus and cytoplasm by fluorescence in situ hybridization..
Function FLCN is a novel protein, with no characteristic domains to suggest function. Coimmunoprecipitation studies have identified a novel folliculin-binding partner, FNIP1, which also interacts with 5╣AMP-activated protein kinase (AMPK), a key molecule for energy sensing and a negative regulator of mTOR (mammalian target of rapamycin). FLCN exists in phosphorylated forms, which are enhanced by FNIP1 overexpression, and suppressed by inhibitors of mTOR signaling including rapamycin and amino acid starvation, and by an AMPK inhibitor, Compound C. These data suggest that FLCN and its interacting partner, FNIP1, may be involved in energy and nutrient-sensing through the AMPK and mTOR signaling pathways.
Using a genetic approach in Drosophila, RNA interference studies to decrease expression of the fly BHD homolog, DBHD, have established a requirement for DBHD in male germline stem cell maintenance in the fly testis. Further genetic studies to examine the interaction between DBHD and the JAK/STAT pathway, which is necessary for germline stem cell self-renewal, suggested that DBHD may regulate maintenance of germline stem cells downstream of or in parallel with the JAK/STAT and Dpp(a TGFbeta family member) signaling pathways. Thus the work with the Drosophila homolog of FLCN/BHD supports a potential role for DBHD in stem cell maintenance and raises the possibility that dysregulation of FLCN in human tumors may result from aberrant modulation of stem cells.
Homology Folliculin shows no strong homology to any known proteins but is evolutionarily conserved, and orthologs have been identified in chimpanzee, dog, cow, rat, mouse, red jungle fowl, frog, fly, and worm.

Mutations

Germinal All FLCN/BHD germline mutations identified in Birt-Hogg-DubÚ (BHD) patients are predicted to truncate the mutant protein, including frameshift (insertions/deletions), nonsense and splice-site mutations. To date, no missense germline mutations have been identified. The mutation detection rate in BHD families is about 84%. Mutations are located along the entire length of the coding region, with no genotype-phenotype correlations noted between type of mutation, location within the gene and phenotypic disease manifestations (BHD skin lesions, lung cysts/spontaneous pneumothorax and renal tumors). The most frequent mutation found in the germline of BHD patients is the insertion or deletion of a cytosine in a C8 tract located in exon 11, predicted to cause a frameshift and prematurely truncate the mutant protein. This hot spot mutation occurs in about half of all BHD patients. Among BHD patients with the exon 11 mutation, significantly fewer renal tumors developed in patients with the C-deletion than those with the C-insertion mutation.
Germline FLCN/BHD mutations have been reported in primary spontaneous pneumothorax (PSP) families with nearly 100% penetrance in family members in which lung blebs or bullae indicated affected status. The PSP-associated mutations, including 2 nonsense and one 4-bp deletion, are predicted to prematurely truncate the protein and are located in exons 9, 12 and 4, respectively.
Somatic FLCN/BHD somatic mutations have been found at only a very low frequency (0-10%) in sporadic renal tumors and therefore, may not represent a major mechanism for the development of sporadic renal carcinoma. Loss of 17p DNA including p53 (36%) or partial methylation (28%) of the FLCN/BHD promoter were reported in sporadic renal carcinomas with various histologies.
Mutations have been identified in the mutational hot spot in exon 11 of the FLCN/BHD gene in other tumor types exhibiting microsatellite instability, including colorectal carcinoma (20%), endometrial carcinoma (12%) and gastric carcinoma (16%).

Implicated in

Entity Birt-Hogg-DubÚ(BHD) syndrome
Disease Birt-Hogg-DubÚ(BHD) syndrome is an inherited autosomal dominant genodermatosis characterized by benign tumors of the hair follicle (fibrofolliculoma), lung cysts, spontaneous pneumothorax and renal neoplasia. Colon polyps or colon cancer may be part of the disease manifestations in some BHD cohorts although no statistically significant association was found. BHD syndrome is caused by germline mutations in the FLCN/BHD gene. Any or all of these phenotypic features may develop in a BHD patient; the phenotype is variable within and among BHD families inheriting the identical FLCN/BHD mutation (i.e., C-insertion/deletion in exon 11).
Prognosis BHD is a rare disorder occurring in about 1/200,000 individuals. The BHD skin lesions, which develop after puberty (above 25 years of age) are highly penetrant (above 85%) and may be disfiguring, but they are benign and have no health consequences. Lung cysts detected by thoracic CT scan are very frequent (above 85%) in BHD patients. Episodes of spontaneous pneumothorax in BHD patients occur with a higher frequency before the age of 40, and repeat episodes cease after surgical intervention. The risk for developing renal neoplasia is about 7-fold higher for BHD mutation carriers than for their unaffected siblings. Most commonly, chromophobe renal carcinoma (34%) and oncocytic hybrid tumors (50%), develop in about half of BHD families with an average age at diagnosis of 48-50 and a male/female ratio of 2:1. Tumors may develop bilaterally with multiple foci or unilaterally with a single focus, and variable tumor histology may be seen in a single patient╣s kidney and among BHD family members carrying the same FLCN/BHD mutation.
Oncogenesis Patients with BHD syndrome are at a higher risk for the development of chromophobe renal carcinoma, oncocytic hybrid renal tumors and clear cell renal carcinoma, which may be aggressive and metastatic. Renal oncocytosis, which are small clusters of cells resembling those found in the larger hybrid tumors, have been found scattered throughout the kidney of a majority of BHD patients, suggesting that the entire renal parenchyma may be at risk for tumor development. Second hit somatic mutations in the remaining wild type copy of the FLCN/BHD gene have been identified in renal tumors from BHD patients with germline mutations and may contribute to the progression of renal oncocytosis to renal neoplasia (see below).
  
Entity Primary Spontaneous Pneumothorax (PSP)
Disease Primary spontaneous pneumothorax is a condition in which air is present in the pleural space without a precipitating event that results in the secondary partial or complete collapse of the lung. FLCN/BHD mutations have been found associated with inherited autosomal dominant primary spontaneous pneumothorax (PSP) in some PSP families. In these families PSP was the only phenotypic feature and the mutation was 100% penetrant with lung bullae.
  

To be noted

Animal models of BHD: A germline single nucleotide insertion in the first coding exon of the rat Bhd ortholog was found in the Nihon rat, an established animal model of renal carcinoma, which develops renal tumors by 8 weeks of age. A germline mutation in the canine Bhd ortholog, which changes a conserved histidine to arginine (H255R), gives rise to RCND (renal cystadenoma nodular dermatofibroma) in the German Shepherd dog with a renal tumor and skin nodule phenotype.
Tumor suppressor role for FLCN/BHD: Somatic mutations in the wild type copy of the FLCN/BHD gene or loss of heterozygosity at 17p11.2 have been identified in a majority of renal tumors from BHD patients who inherit germline mutations, suggesting that FLCN/BHD may act as a tumor suppressor gene. Tumors from a single BHD patient have different second mutations or LOH, but within the same tumor, even within regions with different histologies, the same second mutation was observed, suggesting that multiple tumors arise from independent, clonal events initiated by the second hit.
Haploinsufficiency, however, may be sufficient for the development of the benign hair follicle tumors (fibrofolliculomas), because the wild type copy of the FLCN/BHD gene is retained in microdissected tissue from these skin lesions.

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945

External links

Nomenclature
HGNC (Hugo)FLCN   27310
Cards
AtlasFLCNID789ch17p11
Entrez_Gene (NCBI)FLCN  201163  folliculin
GeneCards (Weizmann)FLCN
Ensembl hg19 (Hinxton)ENSG00000154803 [Gene_View]  chr17:17124485-17140502 [Contig_View]  FLCN [Vega]
Ensembl hg38 (Hinxton)ENSG00000154803 [Gene_View]  chr17:17124485-17140502 [Contig_View]  FLCN [Vega]
ICGC DataPortalENSG00000154803
cBioPortalFLCN
AceView (NCBI)FLCN
Genatlas (Paris)FLCN
WikiGenes201163
SOURCE (Princeton)FLCN
Genomic and cartography
GoldenPath hg19 (UCSC)FLCN  -     chr17:17124485-17140502 -  17p11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FLCN  -     17p11.2   [Description]    (hg38-Dec_2013)
EnsemblFLCN - 17p11.2 [CytoView hg19]  FLCN - 17p11.2 [CytoView hg38]
Mapping of homologs : NCBIFLCN [Mapview hg19]  FLCN [Mapview hg38]
OMIM135150   144700   173600   607273   
Gene and transcription
Genbank (Entrez)AF517523 AK126951 AK127912 AK309336 AL831885
RefSeq transcript (Entrez)NM_144606 NM_144997
RefSeq genomic (Entrez)AC_000149 NC_000017 NC_018928 NG_008001 NT_010718 NW_001838410 NW_004929405
Consensus coding sequences : CCDS (NCBI)FLCN
Cluster EST : UnigeneHs.31652 [ NCBI ]
CGAP (NCI)Hs.31652
Alternative Splicing : Fast-db (Paris)GSHG0013146
Alternative Splicing GalleryENSG00000154803
Gene ExpressionFLCN [ NCBI-GEO ]     FLCN [ SEEK ]   FLCN [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFG4 (Uniprot)
NextProtQ8NFG4  [Medical]
With graphics : InterProQ8NFG4
Splice isoforms : SwissVarQ8NFG4 (Swissvar)
Domains : Interpro (EBI)Folliculin   
Related proteins : CluSTrQ8NFG4
Domain families : Pfam (Sanger)Folliculin (PF11704)   
Domain families : Pfam (NCBI)pfam11704   
DMDM Disease mutations201163
Blocks (Seattle)Q8NFG4
PDB (SRS)3V42   
PDB (PDBSum)3V42   
PDB (IMB)3V42   
PDB (RSDB)3V42   
Human Protein AtlasENSG00000154803
Peptide AtlasQ8NFG4
HPRD06278
IPIIPI00329635   IPI00185096   IPI00444197   IPI00796427   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFG4
IntAct (EBI)Q8NFG4
FunCoupENSG00000154803
BioGRIDFLCN
IntegromeDBFLCN
STRING (EMBL)FLCN
Ontologies - Pathways
QuickGOQ8NFG4
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  in utero embryonic development  regulation of protein phosphorylation  positive regulation of protein phosphorylation  protein binding  nucleus  cytoplasm  plasma membrane  cell-cell junction assembly  positive regulation of gene expression  negative regulation of gene expression  negative regulation of mitochondrion organization  hemopoiesis  negative regulation of cell growth  negative regulation of cell migration  midbody  positive regulation of transforming growth factor beta receptor signaling pathway  positive regulation of transforming growth factor beta receptor signaling pathway  TOR signaling  regulation of TOR signaling  negative regulation of TOR signaling  positive regulation of TOR signaling  protein complex binding  regulation of cytokinesis  negative regulation of Rho protein signal transduction  regulation of histone acetylation  positive regulation of apoptotic process  cell-cell contact zone  positive regulation of cell adhesion  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  negative regulation of protein kinase B signaling  negative regulation of ERK1 and ERK2 cascade  negative regulation of protein localization to nucleus  negative regulation of cell proliferation involved in kidney development  negative regulation of energy homeostasis  regulation of pro-B cell differentiation  negative regulation of ATP biosynthetic process  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  in utero embryonic development  regulation of protein phosphorylation  positive regulation of protein phosphorylation  protein binding  nucleus  cytoplasm  plasma membrane  cell-cell junction assembly  positive regulation of gene expression  negative regulation of gene expression  negative regulation of mitochondrion organization  hemopoiesis  negative regulation of cell growth  negative regulation of cell migration  midbody  positive regulation of transforming growth factor beta receptor signaling pathway  positive regulation of transforming growth factor beta receptor signaling pathway  TOR signaling  regulation of TOR signaling  negative regulation of TOR signaling  positive regulation of TOR signaling  protein complex binding  regulation of cytokinesis  negative regulation of Rho protein signal transduction  regulation of histone acetylation  positive regulation of apoptotic process  cell-cell contact zone  positive regulation of cell adhesion  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  negative regulation of protein kinase B signaling  negative regulation of ERK1 and ERK2 cascade  negative regulation of protein localization to nucleus  negative regulation of cell proliferation involved in kidney development  negative regulation of energy homeostasis  regulation of pro-B cell differentiation  negative regulation of ATP biosynthetic process  
Pathways : KEGGRenal cell carcinoma   
Protein Interaction DatabaseFLCN
DoCM (Curated mutations)FLCN
Wikipedia pathwaysFLCN
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerFLCN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FLCN
dbVarFLCN
ClinVarFLCN
1000_GenomesFLCN 
Exome Variant ServerFLCN
SNP (GeneSNP Utah)FLCN
SNP : HGBaseFLCN
Genetic variants : HAPMAPFLCN
Genomic VariantsFLCN  FLCN [DGVbeta]
Mutations
ICGC Data PortalENSG00000154803 
Somatic Mutations in Cancer : COSMICFLCN 
CONAN: Copy Number AnalysisFLCN 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)ABCC's LOVD - Leiden Open Variation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:17124485-17140502
Mutations and Diseases : HGMDFLCN
OMIM135150    144700    173600    607273   
MedgenFLCN
NextProtQ8NFG4 [Medical]
GENETestsFLCN
Disease Genetic AssociationFLCN
Huge Navigator FLCN [HugePedia]  FLCN [HugeCancerGEM]
snp3D : Map Gene to Disease201163
DGIdb (Drug Gene Interaction db)FLCN
General knowledge
Homologs : HomoloGeneFLCN
Homology/Alignments : Family Browser (UCSC)FLCN
Phylogenetic Trees/Animal Genes : TreeFamFLCN
Chemical/Protein Interactions : CTD201163
Chemical/Pharm GKB GenePA134901005
Drug Sensitivity FLCN
Clinical trialFLCN
Cancer Resource (Charite)ENSG00000154803
Other databases
Probes
Litterature
PubMed70 Pubmed reference(s) in Entrez
CoreMineFLCN
GoPubMedFLCN
iHOPFLCN

Bibliography

Birt-Hogg-Dubłę syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2.
Khoo SK, Bradley M, Wong FK, Hedblad MA, NordenskjłĆld M, Teh BT
Oncogene. 2001 ; 20 (37) : 5239-5242.
PMID 11526515
 
Birt-Hogg-Dubłę syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.
Schmidt LS, Warren MB, Nickerson ML, Weirich G, Matrosova V, Toro JR, Turner ML, Duray P, Merino M, Hewitt S, Pavlovich CP, Glenn G, Greenberg CR, Linehan WM, Zbar B
American journal of human genetics. 2001 ; 69 (4) : 876-882.
PMID 11533913
 
Clinical and genetic studies of Birt-Hogg-Dubłę syndrome.
Khoo SK, Giraud S, Kahnoski K, Chen J, Motorna O, Nickolov R, Binet O, Lambert D, Friedel J, Lłęvy R, Ferlicot S, Wolkenstein P, Hammel P, Bergerheim U, Hedblad MA, Bradley M, Teh BT, NordenskjłĆld M, Richard S
Journal of medical genetics. 2002 ; 39 (12) : 906-912.
PMID 12471204
 
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubłę syndrome.
Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P, Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M, Munroe D, Hill R, Maher E, Greenberg C, Lerman MI, Linehan WM, Zbar B, Schmidt LS
Cancer cell. 2002 ; 2 (2) : 157-164.
PMID 12204536
 
Renal tumors in the Birt-Hogg-Dubłę syndrome.
Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM, Merino MJ
The American journal of surgical pathology. 2002 ; 26 (12) : 1542-1552.
PMID 12459621
 
Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubłę syndrome.
Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L, Walther M, Choyke P, Weirich G, Hewitt SM, Duray P, Gabril F, Greenberg C, Merino MJ, Toro J, Linehan WM
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 2002 ; 11 (4) : 393-400.
PMID 11927500
 
Analysis of the Birt-Hogg-Dubłę (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer.
da Silva NF, Gentle D, Hesson LB, Morton DG, Latif F, Maher ER
Journal of medical genetics. 2003 ; 40 (11) : 820-824.
PMID 14627671
 
Alterations of the Birt-Hogg-Dubłę gene (BHD) in sporadic colorectal tumours.
Kahnoski K, Khoo SK, Nassif NT, Chen J, Lobo GP, Segelov E, Teh BT
Journal of medical genetics. 2003 ; 40 (7) : 511-515.
PMID 12843323
 
Inactivation of BHD in sporadic renal tumors.
Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, NordenskjłĆld M, Teh BT
Cancer research. 2003 ; 63 (15) : 4583-4587.
PMID 12907635
 
A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog.
Lingaas F, Comstock KE, Kirkness EF, SłŻrensen A, Aarskaug T, Hitte C, Nickerson ML, Moe L, Schmidt LS, Thomas R, Breen M, Galibert F, Zbar B, Ostrander EA
Human molecular genetics. 2003 ; 12 (23) : 3043-3053.
PMID 14532326
 
Mutations of the Birt-Hogg-Dubłę (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability.
Shin JH, Shin YK, Ku JL, Jeong SY, Hong SH, Park SY, Kim WH, Park JG
Journal of medical genetics. 2003 ; 40 (5) : 364-367.
PMID 12746401
 
Lack of mutation of the folliculin gene in sporadic chromophobe renal cell carcinoma and renal oncocytoma.
Nagy A, Zoubakov D, Stupar Z, Kovacs G
International journal of cancer. Journal international du cancer. 2004 ; 109 (3) : 472-475.
PMID 14961590
 
A germ-line insertion in the Birt-Hogg-Dubłę (BHD) gene gives rise to the Nihon rat model of inherited renal cancer.
Okimoto K, Sakurai J, Kobayashi T, Mitani H, Hirayama Y, Nickerson ML, Warren MB, Zbar B, Schmidt LS, Hino O
Proceedings of the National Academy of Sciences of the United States of America. 2004 ; 101 (7) : 2023-2027.
PMID 14769940
 
Birt-Hogg-Dubłę syndrome, a genodermatosis that increases risk for renal carcinoma.
Schmidt LS
Current molecular medicine. 2004 ; 4 (8) : 877-885.
PMID 15579035
 
Expression of Birt-Hogg-Dubłę gene mRNA in normal and neoplastic human tissues.
Warren MB, Torres-Cabala CA, Turner ML, Merino MJ, Matrosova VY, Nickerson ML, Ma W, Linehan WM, Zbar B, Schmidt LS
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 2004 ; 17 (8) : 998-1011.
PMID 15143337
 
Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.
Graham RB, Nolasco M, Peterlin B, Garcia CK
American journal of respiratory and critical care medicine. 2005 ; 172 (1) : 39-44.
PMID 15805188
 
A 4-bp deletion in the Birt-Hogg-Dubłę gene (FLCN) causes dominantly inherited spontaneous pneumothorax.
Painter JN, Tapanainen H, Somer M, Tukiainen P, Aittomłžki K
American journal of human genetics. 2005 ; 76 (3) : 522-527.
PMID 15657874
 
Evaluation and management of renal tumors in the Birt-Hogg-Dubłę syndrome.
Pavlovich CP, Grubb RL 3rd, Hurley K, Glenn GM, Toro J, Schmidt LS, Torres-Cabala C, Merino MJ, Zbar B, Choyke P, Walther MM, Linehan WM
The Journal of urology. 2005 ; 173 (5) : 1482-1486.
PMID 15821464
 
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubłę syndrome.
Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM
American journal of human genetics. 2005 ; 76 (6) : 1023-1033.
PMID 15852235
 
High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubłę-associated renal tumors.
Vocke CD, Yang Y, Pavlovich CP, Schmidt LS, Nickerson ML, Torres-Cabala CA, Merino MJ, Walther MM, Zbar B, Linehan WM
Journal of the National Cancer Institute. 2005 ; 97 (12) : 931-935.
PMID 15956655
 
Birt-Hogg-Dubłę syndrome: clinicopathologic findings and genetic alterations.
Adley BP, Smith ND, Nayar R, Yang XJ
Archives of pathology & laboratory medicine. 2006 ; 130 (12) : 1865-1870.
PMID 17149965
 
Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.
Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, Esposito D, Gillette WK, Hopkins RF 3rd, Hartley JL, Furihata M, Oishi S, Zhen W, Burke TR Jr, Linehan WM, Schmidt LS, Zbar B
Proceedings of the National Academy of Sciences of the United States of America. 2006 ; 103 (42) : 15552-15557.
PMID 17028174
 
A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubłę syndrome.
Bessis D, Giraud S, Richard S
The British journal of dermatology. 2006 ; 155 (5) : 1067-1069.
PMID 17034545
 
Birt-Hogg-Dubłę gene mutations in human endometrial carcinomas with microsatellite instability.
Fujii H, Jiang W, Matsumoto T, Miyai K, Sashara K, Ohtsuji N, Hino O
The Journal of pathology. 2006 ; 209 (3) : 328-335.
PMID 16691634
 
Birt-Hogg-Dubłę (BHD) gene mutations in human gastric cancer with high frequency microsatellite instability.
Jiang W, Fujii H, Matsumoto T, Ohtsuji N, Tsurumaru M, Hino O
Cancer letters. 2007 ; 248 (1) : 103-111.
PMID 16870330
 
The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance.
Singh SR, Zhen W, Zheng Z, Wang H, Oh SW, Liu W, Zbar B, Schmidt LS, Hou SX
Oncogene. 2006 ; 25 (44) : 5933-5941.
PMID 16636660
 
Mutations in BHD and TP53 genes, but not in HNF1beta gene, in a large series of sporadic chromophobe renal cell carcinoma.
Gad S, Lefł«vre SH, Khoo SK, Giraud S, Vieillefond A, Vasiliu V, Ferlicot S, Moliniłę V, Denoux Y, Thiounn N, Chrłętien Y, Młęjean A, Zerbib M, BenołĂt G, Hervłę JM, Allł«gre G, Bressac-de Paillerets B, Teh BT, Richard S
British journal of cancer. 2007 ; 96 (2) : 336-340.
PMID 17133269
 
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubłę patients.
van Steensel MA, Verstraeten VL, Frank J, Kelleners-Smeets NW, Poblete-Gutiłęrrez P, Marcus-Soekarman D, Bladergroen RS, Steijlen PM, van Geel M
The Journal of investigative dermatology. 2007 ; 127 (3) : 588-593.
PMID 17124507
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written02-2007Laura S Schmidt

Citation

This paper should be referenced as such :
Schmidt, LS
FLCN (folliculin gene)
Atlas Genet Cytogenet Oncol Haematol. 2007;11(3):188-191.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/FLCNID789ch17p11.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 15:21:31 CET 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.