Transcriptomics

Dataset Information

32

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 | ArrayExpress| 2014-05-02

SECONDARY ACCESSION(S): GSE21816PRJNA127261

REPOSITORIES: GEO, ArrayExpress

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Publications


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 mutations and the extent  ...[more]

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