biostudies-literatureHasumi HKAKENHINational Bioscience Database CenterProject for Development of Innovative Research on Cancer TherapeuticsFrederick National Laboratory for Cancer ResearchDepartment of Health and Human ServicesJSTNational Institutes of HealthNIHIntramural Research ProgramJSPSCenter for Cancer ResearchCCR NIH HHSNCINBDCNational Cancer InstituteNCI NIH HHSJapan Science and Technology AgencyMinistry of Education, Culture, Sports, Science and Technology of Japan2712-2724https://www.ebi.ac.uk/biostudies/studies/S-EPMC6048985biostudies-literatureUnknown27(15)Birt-Hogg-Dubé (BHD) syndrome is a hereditary kidney cancer syndrome, which predisposes patients to develop kidney cancer, cutaneous fibrofolliculomas and pulmonary cysts. The responsible gene FLCN is a tumor suppressor for kidney cancer, which plays an important role in energy homeostasis through the regulation of mitochondrial oxidative metabolism. However, the process by which FLCN-deficiency leads to renal tumorigenesis is unclear. In order to clarify molecular pathogenesis of BHD-associated kidney cancer, we conducted whole-exome sequencing analysis using next-generation sequencing technology as well as metabolite analysis using liquid chromatography-mass spectrometry and gas chromatography-mass spectrometry. Whole-exome sequencing analysis of BHD-associated kidney cancer revealed thaHuman molecular geneticsBHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes.PMC6048985HHSN261200800001E15551829HHSN261200800001C16K1102015K1060015604475Muraoka KKawahara TJikuya RNagashima YSuzuki KOsaka KMakiyama KHasumi HOtake SHayashi NUemura HMetwalli ARFuruya MNakaigawa NHasumi YLinehan WMAburatani HYao MSchmidt LSYamamoto SMiyoshi YIsono YYumura YTeranishi JTatsuno KBaba MIzumi KKondo KfalseBHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes.Birt-Hogg-Dubé (BHD) syndrome is a hereditary kidney cancer syndrome, which predisposes patients to develop kidney cancer, cutaneous fibrofolliculomas and pulmonary cysts. The responsible gene FLCN is a tumor suppressor for kidney cancer, which plays an important role in energy homeostasis through the regulation of mitochondrial oxidative metabolism. However, the process by which FLCN-deficiency leads to renal tumorigenesis is unclear. In order to clarify molecular pathogenesis of BHD-associated kidney cancer, we conducted whole-exome sequencing analysis using next-generation sequencing technology as well as metabolite analysis using liquid chromatography-mass spectrometry and gas chromatography-mass spectrometry. Whole-exome sequencing analysis of BHD-associated kidney cancer revealed tha2018-01-01T00:00:00Z2018 Aug2025-05-29T21:59:39.732Z2025-05-29T21:59:39.732ZS-EPMC60489852976772110.1093/hmg/ddy181