|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dubé syndrome (BHDS), first described in 1977, is a rare autosomal dominant disorder, linked to germline mutations in the FLCN (folliculin) gene.
|
27596542 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
|
27356891 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dubé syndrome (BHD) is an inherited disorder caused by genetic mutations in the folliculin (FLCN) gene.
|
26974543 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
Biomarker
|
disease |
CTD_human |
Folliculin (FLCN) is the tumor suppressor associated with Birt-Hogg-Dubé (BHD) syndrome that predisposes patients to incident of hamartomas and cysts in multiple organs.
|
27072130 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?
|
26603437 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.
|
26402642 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome.
|
27652079 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome.
|
27642565 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
Biomarker
|
disease |
BEFREE |
There is both clinical and molecular overlap between BHD and TSC, which may arise from similarities in function of the TSC and FLCN proteins in the mTOR pathway; this case further demonstrates this potential correlation.
|
27643397 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A diagnosis of BHDS was eventually made according to the detection of a folliculin gene mutation.
|
26028485 |
2015 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.
|
26334087 |
2015 |
|
Multiple fibrofolliculomas
|
1.000 |
Biomarker
|
disease |
BEFREE |
The gene responsible for BHDS is located on the short arm of chromosome 17 (17p11.2) and codes for the protein folliculin, which is believed to be an oncogene suppressor protein.
|
25519092 |
2015 |
|
Multiple fibrofolliculomas
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our results confirmed the presence of deletion mutation in poly-C tract of FLCN in members of BHDS family.
|
25827758 |
2015 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Birt-Hogg-Dubé syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman.
|
26943385 |
2015 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of familial spontaneous pneumothorax in an Indian family.
|
25827758 |
2015 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the FLCN gene on chromosome 17 are responsible for BHD syndrome--BHD-associated renal tumours display inactivation of the wild-type FLCN allele by somatic mutation or chromosomal loss, confirming that FLCN is a tumour suppressor gene that fits the classic two-hit model.
|
26334087 |
2015 |
|
Multiple fibrofolliculomas
|
1.000 |
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 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder associated with a germline mutation of folliculin (FLCN).
|
25597876 |
2015 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients.
|
24393238 |
2014 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
An oncocytic adrenal tumour in a patient with Birt-Hogg-Dubé syndrome.
|
23848572 |
2014 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients.
|
24994497 |
2014 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A pathogenic FLCN mutation was found in both patients confirming suspected BHD.
|
24994497 |
2014 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was corroborated by identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in heterozygosity on exon 6 of the folliculin gene.
|
24346920 |
2014 |
|
Multiple fibrofolliculomas
|
1.000 |
Biomarker
|
disease |
CTD_human |
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 |