Multiple fibrofolliculomas
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Salivary gland tumors that developed in BHD patients exhibited an upregulated mTOR-S6R pathway as well as increased GPNMB expression, which are characteristics of FLCN-deficient cells.
|
31806376 |
2020 |
Multiple fibrofolliculomas
|
1.000 |
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 |
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The FLCN gene, which is responsible for BHD syndrome, was sequenced using the Sanger method in 25 probands.
|
31177286 |
2020 |
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The literature has reported cases diagnosed with familial PSP, who have no manifestations of Birt-Hogg-Dubé (BHD) syndrome but mutations in different exons of the Folliculin (FLCN) gene.
|
31625278 |
2019 |
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results expand the mutational spectrum of FLCN gene in patients with BHD syndrome.
|
31567476 |
2019 |
Multiple fibrofolliculomas
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
These findings suggest that the decreased FLCN expression itself without producing mutated folliculin proteins can be at risk for developing clinical manifestations of BHDS: fibrofolliculomas, lung cysts, and tumorigenesis in the kidneys.
|
31778855 |
2019 |
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The suspicious cases underwent genetic analysis of the BHDS-causative gene FLCN.
|
31266032 |
2019 |
Multiple fibrofolliculomas
|
1.000 |
Biomarker
|
disease |
BEFREE |
The causative gene for BHDS is the folliculin (FLCN) gene and more than 200 mutations have been reported in FLCN, mostly truncating mutations.
|
31615547 |
2019 |
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The patient had a family history of BHD syndrome which was confirmed by FLCN gene sequencing.
|
31694440 |
2019 |
Multiple fibrofolliculomas
|
1.000 |
Biomarker
|
disease |
BEFREE |
The diagnosis of BHDS was established by folliculin (FLCN) genetic testing, and the results were compared to the histopathological findings of FFs or trichodiscomas (TDs).
|
29157599 |
2018 |
Multiple fibrofolliculomas
|
1.000 |
Biomarker
|
disease |
BEFREE |
The Birt-Hogg-Dubé (BHD) syndrome related protein FLCN has recently been implicated in the vesicular trafficking processes by interacting with several Rab family GTPases.
|
30446510 |
2018 |
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
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 |
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dubé syndrome (BHD, also referred to as Hornstein-Knickenberg syndrome) is an autosomal dominant tumor syndrome caused by mutations in the FLCN gene located on chromosome 17.
|
29537177 |
2018 |
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.
|
29720200 |
2018 |
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum?
|
28869776 |
2018 |
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation.
|
27722904 |
2017 |
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé syndrome, a rare tumor syndrome which is characterized by the combination of renal cell carcinoma, pneumothorax and skin tumors.
|
28499369 |
2017 |
Multiple fibrofolliculomas
|
1.000 |
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 |
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FLCN are associated with Birt-Hogg-Dubé (BHD) syndrome, a rare disorder with increased risk of renal cancer.
|
28039480 |
2017 |
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we report the identification of 13 variants and three polymorphisms in the FLCN gene in 143 Danish patients or families with suspected BHD syndrome.
|
27734835 |
2017 |
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.
|
27734835 |
2017 |
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.
|
28724667 |
2017 |
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel germline mutations in FLCN gene identified in two Chinese patients with Birt-Hogg-Dubé syndrome.
|
28069055 |
2017 |
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Seventeen patients met the study inclusion criteria and underwent screening for FLCN mutation to confirm BHD.
|
28151982 |
2017 |
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
|
28558743 |
2017 |