Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2

Schmidt, Laura S.; Warren, Michelle B.; Nickerson, Michael L.; Weirich, Gregor; Matrosova, Vera Y.; Toro, Jorge R.; Turner, Maria L.; Duray, Paul H.; Merino, María J.; Hewitt, Stephen M.; Pavlovich, Christian P.; Glenn, Gladys; Greenberg, Cheryl R.; Linehan, W. Marston; Zbar, Berton

doi:10.1086/323744

Cited by 328 publications

(186 citation statements)

References 25 publications

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“…BHD syndrome is caused by loss-of-function mutations in the folliculin gene (FLCN) (BHD gene) [3]. The FLCN gene is a tumor suppressor gene located on 17p11.2 that encodes for the protein folliculin [4,17]. Folliculin is a 64 kDa protein whose function is incompletely understood.…”

Section: Birt-hogg-dubé Syndromementioning

confidence: 99%

Tumor Biology and Prognostic Factors in Renal Cell Carcinoma

2011

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In the past 15 years, there has been an increased understanding of the tumor biology of renal cell carcinoma (RCC). The identification of vascular endothelial growth factor (VEGF), its related receptor (VEGFR), and the mammalian target of rapamycin as dysregulated signaling pathways in the development and progression of RCC has resulted in the rational development of pharmaceutical agents capable of specifically targeting key steps in these pathways. Clinical trials have demonstrated survival benefit with these agents, particularly in clear cell RCC patients. However, metastatic RCC will progress in all patients, resulting in a critical need to determine patient risk and optimize treatment. The goal of this article is to highlight the significant breakthroughs made in understanding the critical genetic alterations and signaling pathways underlying the pathogenesis of RCC. The discovery of prognostic factors and development of comprehensive nomograms to stratify patient risk and predictive biomarkers to facilitate individualized treatment selection and predict patient response to therapy also are reviewed. The Oncologist 2011;16(suppl 2):4 -13

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Section: Birt-hogg-dubé Syndromementioning

confidence: 99%

Tumor Biology and Prognostic Factors in Renal Cell Carcinoma

2011

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“…In 2001 evidence for linkage of BHD to chromosome 17p11 was demonstrated (Khoo et al, 2001;Schmidt et al, 2001). Germline mutations in the folliculin gene (FLCN) were first identified in BHD patients in 2002 (Nickerson et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene

et al. 2010

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Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised by the presence of facial fibrofolliculomas, pulmonary cysts which may be associated with spontaneous pneumothorax and renal tumours. Germline mutations in the gene Folliculin (FLCN) were first identified in BHD patients in 2002. In addition FLCN mutations have also been described in families with isolated primary spontaneous pneumothorax (PSP) and also familial clear cell renal carcinomas (FcRCC). We have established a locus-specific database based on the Leiden Open (source) Variation Database (LOVD) software. The version of the database contains 60 previously published mutations and 10 previously unpublished novel germline FLCN mutations. The mutations are comprised of deletions (44.3%), substitutions (35.7%), duplications (14.3%) and deletion/insertions (5.7%). The database is accessible online at http://www.lovd.nl/flcn

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“…Birt-Hogg-Dube´syndrome (BHD) is characterized by benign skin papules (fibrofolliculomas), lung cysts, spontaneous pneumothorax and an increased risk for developing kidney tumors (Birt et al, 1977;Schmidt et al, 2001;Zbar et al, 2002). The most common form of kidney tumor seen in BHD patients is an oncocytic hybrid tumor that comprises features of both chromophobe renal carcinoma and renal oncocytoma .…”

Section: Introductionmentioning

confidence: 99%

The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance

et al. 2006

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Birt-Hogg-Dube´syndrome (BHD) is a rare, inherited genodermatosis characterized by hair follicle hamartomas, kidney tumors and spontaneous pneumothorax. The BHD locus was mapped to chromosome 17p11.2 by linkage analysis, and germline mutations in a novel gene (BHD) were identified in a panel of BHD families. Using RNA interference to decrease expression of the Drosophila BHD homolog (DBHD), we have demonstrated that DBHD is required for male germline stem cell (GSC) maintenance in the fly testis. Reduction of DBHD gene activity suppresses the GSC overproliferation phenotype associated with overexpression of either unpaired (upd) or decapentaplegic (dpp). Further genetic interaction experiments suggest that DBHD regulates GSC maintenance downstream or in parallel of the JAK/ STAT and Dpp signal-transduction pathways. These findings suggest that the BHD protein may regulate tumorigenesis through modulating stem cells in human.

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Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2

Cited by 328 publications

References 25 publications

Tumor Biology and Prognostic Factors in Renal Cell Carcinoma

Tumor Biology and Prognostic Factors in Renal Cell Carcinoma

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene

The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance

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