|
Kidney Neoplasm
|
0.500 |
Biomarker
|
disease |
BEFREE |
Ongoing research efforts are focused on clarifying the primary FLCN-associated pathway(s) that drives the development of fibrofolliculomas, lung cysts and kidney tumors in BHD patients carrying germline FLCN mutations.
|
28970150 |
2018 |
|
Kidney Neoplasm
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we describe an FLCN mutation in a 55-year-old patient who presented himself with progressive weight loss, bilateral kidney cysts and renal tumors.
|
28499369 |
2017 |
|
Kidney Neoplasm
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Germline H255Y and K508R missense mutations in the folliculin (FLCN) gene have been identified in patients with bilateral multifocal (BMF) kidney tumours and clinical manifestations of Birt-Hogg-Dubé (BHD) syndrome, or with BMF kidney tumours as the only manifestation; however, their impact on FLCN function remains to be determined.
|
28007907 |
2017 |
|
Kidney Neoplasm
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our study indicates that BHD and FLCN testing should be routinely considered in patients with positive family or personal history of renal tumours.
|
26342594 |
2016 |
|
Kidney Neoplasm
|
0.500 |
Biomarker
|
disease |
BEFREE |
Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome.
|
25594584 |
2015 |
|
Kidney Neoplasm
|
0.500 |
Biomarker
|
disease |
BEFREE |
Genetic and immunohistochemical analysis of the renal tumour indicated features compatible with a tumour suppressor role of FLCN.
|
23264078 |
2013 |
|
Kidney Neoplasm
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The Birt-Hogg-Dube disease occurs as a result of germline mutations in the human Folliculin gene (FLCN), and is characterized by clinical features including fibrofolliculomas, lung cysts and multifocal renal neoplasia.
|
23874397 |
2013 |
|
Kidney Neoplasm
|
0.500 |
Biomarker
|
disease |
BEFREE |
As the mechanisms by which FLCN inactivation leads to BHD manifestations are clarified, we can begin to develop therapeutic agents that target the pathways dysregulated in FLCN-deficient fibrofolliculomas and kidney tumors, providing improved prognosis and quality of life for BHD patients.
|
23108783 |
2013 |
|
Kidney Neoplasm
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, most sporadic tumors lack FLCN mutations and the extent to which the BHDS-derived renal tumors share genetic defects associated with the sporadic tumors has not been well studied.
|
21162720 |
2010 |
|
Kidney Neoplasm
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
FLCN inactivation was correlated with increased TFE3 transcriptional activity accompanied by its nuclear localization as revealed by elevated GPNMB mRNA and protein expression, and predominantly nuclear immunostaining of TFE3 in renal cancer cells, mouse embryo fibroblast cells, mouse kidneys and mouse and human renal tumors.
|
21209915 |
2010 |
|
Kidney Neoplasm
|
0.500 |
Biomarker
|
disease |
BEFREE |
Somatic mutations or loss of heterozygosity in the remaining wild type copy of the FLCN gene have been found in renal tumors from BHD patients suggesting that FLCN is a classic tumor suppressor gene.
|
20573232 |
2010 |
|
Kidney Neoplasm
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We describe here a 64-year-old man with a novel germline mutation in the FLCN gene who presented with 3 phenotypically distinct renal tumors in the same kidney, which were histologically classified as oncocytoma (1.4 cm), oncocytic papillary carcinoma (0.5 cm), and clear cell renal carcinoma (0.8 cm).
|
19733897 |
2009 |
|
Kidney Neoplasm
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dube' syndrome characterized by increased risk for renal neoplasia is caused by germline mutations in the BHD/FLCN gene encoding a novel tumor suppressor protein, folliculin(FLCN), which interacts with FNIP1 and 5'-AMP-activated protein kinase(AMPK).
|
18403135 |
2008 |
|
Kidney Neoplasm
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Rare loss-of-function folliculin (FLCN) mutations are the genetic cause of Birt-Hogg-Dubé syndrome, a monogenic disorder characterized by spontaneous pneumothorax, fibrofolliculomas, and kidney tumors.
|
19116017 |
2008 |
|
Kidney Neoplasm
|
0.500 |
Biomarker
|
disease |
LHGDN |
Inactivation of BHD in sporadic renal tumors.
|
12907635 |
2003 |
|
Kidney Neoplasm
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Kidney Neoplasm
|
0.500 |
CausalMutation
|
disease |
CGI |
|
|
|