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Clinical features, genetics and potential therapeutic approaches for Birt–Hogg–Dubé syndrome

29 Nov 2014

Abstract excerpt

Introduction: Birt–Hogg–Dubé (BHD) syndrome is an autosomal dominant disorder that predisposes to fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal neoplasia. BHD is characterized by germline mutations in the tumor suppressor gene folliculin (FLCN) gene. Inactivation of the remaining FLCN allele in kidney cells drives tumorigenesis. Novel FLCN-interacting proteins, FNIP1 and FNIP2, were...

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PMID: 26581862
DOI: 10.1517/21678707.2014.987124

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