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Gene expression profiling of BHDS-associated renal tumors

ABSTRACT: Renal tumors that arise in individuals with BHD Syndrome represent a molecularly distinct form of renal cancer. In addition, BHD syndrome is due to a mutation the folliculin gene (FLCN). While the folliculin gene is an important tumor suppressor gene, the molecular function of this gene is not well defined. By analyzing tumor samples that contain FLCN mutations, we demonstrate that the FLCN gene is an important regulator of mitochondrial function. Gene expression profiling of BHDS tumors and normal kidney tissues

ORGANISM(S): Homo sapiens

SUBMITTER: Jeff Klomp

PROVIDER: E-GEOD-21816 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression.

Klomp Jeff A JA Petillo David D Niemi Natalie M NM Dykema Karl J KJ Chen Jindong J Yang Ximing J XJ Sääf Annika A Zickert Peter P Aly Markus M Bergerheim Ulf U Nordenskjöld Magnus M Gad Sophie S Giraud Sophie S Denoux Yves Y Yonneau Laurent L Méjean Arnaud A Vasiliu Viorel V Richard Stéphane S MacKeigan Jeffrey P JP Teh Bin T BT Furge Kyle A KA

BMC medical genomics 20101216

<h4>Background</h4>Germline mutations in the folliculin (FLCN) gene are associated with the development of Birt-Hogg-Dubé syndrome (BHDS), a disease characterized by papular skin lesions, a high occurrence of spontaneous pneumothorax, and the development of renal neoplasias. The majority of renal tumors that arise in BHDS-affected individuals are histologically similar to sporadic chromophobe renal cell carcinoma (RCC) and sporadic renal oncocytoma. However, most sporadic tumors lack FLCN mutati ...[more]

PMID: 21162720

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2014-07-28 | E-GEOD-49397 | biostudies-arrayexpress

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Characterizing the tumor suppressor activity of FLCN in Birt-Hogg-Dube syndrome through transcriptiomic and proteomic analysis

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The Folliculin-Fnip1 pathway deleted in human Birt-Hogg-Dube syndrome is required for B cell development.

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