There has been sufficient amount of evidence published associating the FLCN gene with Birt-Hogg-Dube syndrome (BHD) since the gene-disease relationship was first proposed by Nickerson et al. (2002). Plenty of case level studies have been performed with BHD patients that have variants in the FLCN gene. FCLN, which is expressed in skin, lung, and kidney, acts as a general tumor suppressor in human RCC cells in vivo. Knockdown of FLCN in ACHN cells led to the formation of significantly larger tumors and reintroduction of FLCN in 786-0 cells led to a strong decrease in tumor growth. Flcn+/- mice display preneoplastic kidney lesions and tumors and a Nihon rat model of inherited renal cancer with an intragenic Flcn mutation was also established. All of these evidences suggest a definitive relationship between the FLCN gene and Birt-Hogg-Dube syndrome (BHD).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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