Renal Cell Carcinoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dubé (BHD) syndrome is associated with the development of hereditary renal cell carcinoma (RCC) and is caused by a germline mutation in the folliculin gene.
|
31777168 |
2020 |
Renal Cell Carcinoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we report a case of a 14 year-old patient with germline FLCN mutation leading to an early-onset bulky RCC that could not be classified strictly according to existing histological types.
|
28623476 |
2018 |
Renal Cell Carcinoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Using Sanger sequencing we identify a heterozygous splice-site mutation in FLCN in lymphocyte DNA of a patient suffering from renal cell carcinoma.
|
28499369 |
2017 |
Renal Cell Carcinoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC).
|
28069055 |
2017 |
Renal Cell Carcinoma
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Recent studies indicated that FNIP1/FNIP2 double knockout mice display enlarged polycystic kidneys and renal carcinoma, which phenocopies FLCN knockout mice, suggesting that these two proteins function together to suppress renal cancer.
|
28039480 |
2017 |
Renal Cell Carcinoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.
|
26342594 |
2016 |
Renal Cell Carcinoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?
|
26603437 |
2016 |
Renal Cell Carcinoma
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic predisposition to kidney cancer.
|
27899189 |
2016 |
Renal Cell Carcinoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
We further demonstrated that the mTOR inhibitor, sirolimus, suppresses the tumor's growth, suggesting that mTOR inhibitors might be effective in control of FLCN-deficient RCC, especially in BHD renal tumorigenesis.
|
26418749 |
2015 |
Renal Cell Carcinoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Little is known about the immunostaining patterns of mutant FLCN-associated RCCs.
|
25597876 |
2015 |
Renal Cell Carcinoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
To explore therapeutic approaches to renal cell carcinoma in patients with Birt-Hogg-Dubé syndrome we investigated the anticancer effects of irradiation on folliculin deficient renal cancer cells.
|
24434776 |
2014 |
Renal Cell Carcinoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
In a search for potential synthetic-lethal targets for FLCN using a phosphatase siRNA library screening approach, we found that knockdown of SSH2 serine phosphatase (one of the three members of Slingshot family and previously implicated in actin reorganization) specifically induced Caspase3/7 activity in a dose-dependent manner (up to six-fold increase, 10 nM, 72 h) in two human FLCN-deficient cell lines (BHD-origin renal cell carcinoma UOK257 and thyroid carcinoma FTC133) but not in their folliculin expressing isogenic cell lines.
|
23416984 |
2014 |
Renal Cell Carcinoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
These findings define FLCN as a player in HIF-dependent longevity signaling and connect organismal aging, stress resistance, and regulation of longevity with the formation of renal cell carcinoma.
|
23566034 |
2013 |
Renal Cell Carcinoma
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
We demonstrate that VHL regulates expression of FLCN at the mRNA and protein levels in RCC cell lines, and that FLCN protein expression is decreased in human ccRCC tumors with VHL loss, as compared with matched normal kidney tissue.
|
23922894 |
2013 |
Renal Cell Carcinoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
It is known that mutation of FLCN can predispose Birt-Hogg-Dubé (BHD) patient's to renal cell carcinoma , renal and lung cysts, as well as skin fibrofolliculomas.
|
23096221 |
2013 |
Renal Cell Carcinoma
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Thus, several BHD symptoms may be due to abnormal levels of FLCN rather than its complete loss and accordingly, we show expression of mutant FLCN in a BHD-associated renal carcinoma.
|
23784378 |
2013 |
Renal Cell Carcinoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the renal tumour suppressor protein, folliculin, lead to proliferative skin lesions, lung complications and renal cell carcinoma.
|
22977732 |
2012 |
Renal Cell Carcinoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
To develop therapeutic approaches for renal cell carcinoma (RCC) in BHD syndrome, we adopted a strategy to identify tumor-selective growth inhibition in a RCC cell line with FLCN inactivation.
|
21220493 |
2011 |
Renal Cell Carcinoma
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
A bona fide tumour suppressor activity of FLCN was confirmed by nude mouse xenograft assays of two human RCC cell lines with either diminished or re-expressed FLCN.
|
19843504 |
2010 |
Renal Cell Carcinoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in a tumor suppressor gene FLCN lead to development of fibrofolliculomas, lung cysts and renal cell carcinoma (RCC) in Birt-Hogg-Dubé syndrome.
|
21209915 |
2010 |
Renal Cell Carcinoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The BHD gene (also known as folliculin or FLCN) is the gene for Birt-Hogg-Dube syndrome, an autosomal-dominant genodermatosis associated with a hereditary form of chromophobe and oncocytic, hybrid RCC.
|
19402075 |
2009 |
Renal Cell Carcinoma
|
0.900 |
Therapeutic
|
disease |
RGD |
Transgenic rescue from embryonic lethality and renal carcinogenesis in the Nihon rat model by introduction of a wild-type Bhd gene.
|
16369488 |
2006 |
Renal Cell Carcinoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our data suggest the folliculin gene does not play a role in the tumorigenesis of sporadic chromophobe RCCs and renal oncocytomas.
|
14961590 |
2004 |
Renal Cell Carcinoma
|
0.900 |
Biomarker
|
disease |
RGD |
A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer.
|
14769940 |
2004 |
Renal Cell Carcinoma
|
0.900 |
Biomarker
|
disease |
CTD_human |
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-Dubé syndrome.
|
12204536 |
2002 |