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• W2247166227 endingPage "569" @default.
• W2247166227 startingPage "558" @default.
• W2247166227 abstract "Birt–Hogg–Dubé (BHD) syndrome is an inherited renal cancer syndrome caused by germline mutations in theFLCNgene on chromosome 17. Manifestations include benign cutaneous fibrofolliculomas, bilateral pulmonary cysts and spontaneous pneumothoraces, and kidney tumours. In this Review, Schmidt and Linehan provide an overview of BHD syndrome, discussing the molecular genetics, diagnosis, and management of this rare disorder. Birt–Hogg–Dubé (BHD) syndrome is an inherited renal cancer syndrome in which affected individuals are at risk of developing benign cutaneous fibrofolliculomas, bilateral pulmonary cysts and spontaneous pneumothoraces, and kidney tumours. Bilateral multifocal renal tumours that develop in BHD syndrome are most frequently hybrid oncocytic tumours and chromophobe renal carcinoma, but can present with other histologies. Germline mutations in the FLCN gene on chromosome 17 are responsible for BHD syndrome—BHD-associated renal tumours display inactivation of the wild-type FLCN allele by somatic mutation or chromosomal loss, confirming that FLCN is a tumour suppressor gene that fits the classic two-hit model. FLCN interacts with two novel proteins, FNIP1 and FNIP2, and with AMPK, a negative regulator of mTOR. Studies with FLCN-deficient cell and animal models support a role for FLCN in modulating the AKT–mTOR pathway. Emerging evidence links FLCN with a number of other molecular pathways and cellular processes important for cell homeostasis that are frequently deregulated in cancer, including regulation of TFE3 and/or TFEB transcriptional activity, amino-acid-dependent mTOR activation through Rag GTPases, TGFβ signalling, PGC1α-driven mitochondrial biogenesis, and autophagy. Currently, surgical intervention is the only therapy available for BHD-associated renal tumours, but improved understanding of the FLCN pathway will hopefully lead to the development of effective forms of targeted systemic therapy for this disease." @default.
• W2247166227 created "2016-06-24" @default.
• W2247166227 creator A5004211801 @default.
• W2247166227 creator A5062631461 @default.
• W2247166227 date "2015-09-01" @default.
• W2247166227 modified "2023-10-09" @default.
• W2247166227 title "Molecular genetics and clinical features of Birt–Hogg–Dubé syndrome" @default.
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