FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Interestingly, FLCN, similarly to VHL, is necessary for the activity of LC3C-mediated autophagic program that we have previously characterized as contributing to the tumor suppressing activity of VHL. 23922894 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Interestingly, the truncated protein was still expressed both in cell culture and in tumor tissue, though it was strongly destabilized and its subcellular localization differed from wild-type FLCN. 28499369 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Most cancer-causing mutations lead to a carboxy-terminal truncation of folliculin, pointing to a functional importance of this domain in tumour suppression. 22977732 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Mutated RRAGC proteins demonstrated increased binding to RPTOR (raptor) and substantially decreased interactions with the product of the tumor suppressor gene FLCN (folliculin). 27267853 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE On the one hand, CDK4 phosphorylated the tumor suppressor folliculin (FLCN), regulating mTORC1 recruitment to the lysosomal surface in response to amino acids. 31395606 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Our study suggests that FLCN functions as a tumor suppressor by negatively regulating rRNA synthesis. 23077212 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Our work highlights a mechanism explaining, at least in part, the tumour suppressor function of FLCN. 28656962 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Regulation of mitochondrial oxidative metabolism by tumor suppressor FLCN. 23150719 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Second "hit" FLCN mutations in BHD kidney tumors and loss of tumorigenic potential of the FLCN-null UOK257 tumor cell line when FLCN is re-expressed underscore a tumor suppressor role for FLCN. 23108783 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Sequencing all exons from genomic DNA failed to disclose mutations of the folliculin gene in any of the tumors. 14961590 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Spontaneous pneumothoraces due to lung cyst rupture afflict patients with the rare disease Birt-Hogg-Dubé (BHD) syndrome, which is caused by mutations of the tumor suppressor gene folliculin (FLCN). 24726356 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The tumor suppressor Folliculin (FLCN) is a GAP for RagC/D, a regulator of mTOR. 30843872 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The tumor suppressor folliculin (FLCN) enables nutrient-dependent activation of the mechanistic target of rapamycin complex 1 (mTORC1) protein kinase via its guanosine triphosphatase (GTPase) activating protein (GAP) activity toward the GTPase RagC. 31672913 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE The finding that mutant FLCN was expressed in the tumour might indicate residual functionality of mutant FLCN, a notion which will be explored in future studies. 23264078 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE The function of the BHD product, called folliculin, is still unknown, although it is speculated to be a tumor suppressor gene. 17149965 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE The precise functions of the FLCN gene product are still under investigation but RCC from BHD patients show loss of the wild-type allele consistent with a tumor suppressor gene function. 23416984 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The present identification of two mutations not only further supports the important role of tumor suppressor FLCN in BHD and primary spontaneous pneumothorax, but also expands the spectrum of <i>FLCN</i> mutations and will provide insight into genetic diagnosis and counseling of families with BHD. 28785590 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The responsible gene FLCN is a tumor suppressor for kidney cancer, which plays an important role in energy homeostasis through the regulation of mitochondrial oxidative metabolism. 29767721 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE These data uncover important roles for FLCN in salivary gland; metabolic reprogramming under FLCN deficiency might increase nucleotide production which may feed FLCN-deficient salivary gland cells to trigger tumor initiation and progression, providing mechanistic insight into salivary gland tumorigenesis as well as a foundation for development of novel therapeutics for salivary gland tumors. 31806376 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE These findings suggest that FLCN functions as a tumour suppressor that inhibits renal carcinogenesis. 23223565 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE This is most likely related to haploinsufficiency of FLCN gene, located in the deleted region, and a known tumor suppressor gene. 27633572 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE This sheds light on the pathogenesis of BHDS and the role of FLCN as a tumor suppressor gene. 31778855 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE To examine the tumor suppressor function of FLCN, wild-type or mutant FLCN (H255R) was stably expressed in a FLCN-null renal tumor cell line, UOK257, derived from a BHD patient. 20573232 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Two animal models and studies of renal cancers support a tumor-suppressor function for folliculin. 16825879 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE We conclude that, similarly to PTEN, FLCN may not always follow the classical Two Hits model of tumorigenesis and may hence belong to a class of non-canonical tumour suppressor genes. 23386036 2013