Raw sequence reads data from patient with a rare hereditary cancer disease with renal cancer development in case Birt-Hogg-Dube syndrome

We report a case study of a rare hereditary cancer disease with renal cancer development in case Birt-Hogg-Dube syndrome(BHDS) in a 26-year-old female patient. Patient was admited to a clinic for diagnosis and treatment with a neoplasm of the left kidney and had a history of renal cell cancer (RCC) of the right kidney and spontaneous pneumothorax. We provided a complex clinical and laboratory testing and demonstrated multiple chromophobe carcinomas of the left kidney and lung cysts, germline nonsense mutation c.1429C>T (p.R477*) in the FLCN gene. The p.R477* mutation has been described by other authors in patients with fibrofolliculomas and lung cysts, but not RCC, while RCC was the first manifestation of BHDS in our case. As far as we know, this case study is the first clinical and genetic examination of a BHDS patient in Russia. The case report may help geneticists and oncologists to better understand the clinical and genetic heterogenity of BHDS.