Conventional (Clear Cell) 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 |
Conventional (Clear Cell) 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 |
Conventional (Clear Cell) 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 |
Conventional (Clear Cell) 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 |
Conventional (Clear Cell) 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 |
Conventional (Clear Cell) 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 |
Conventional (Clear Cell) 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 |
Conventional (Clear Cell) 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 |
Conventional (Clear Cell) 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 |
Conventional (Clear Cell) 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 |
Conventional (Clear Cell) 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 |
Conventional (Clear Cell) 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 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.900 |
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 |
Conventional (Clear Cell) 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 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
We also undertook FLCN analysis to evaluate whether unrecognized BHD syndrome might be present in 69 patients with apparent nonsyndromic RCC susceptibility.
|
18794106 |
2008 |
Conventional (Clear Cell) 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 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|