Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

  title={Renal cancer and pneumothorax risk in Birt–Hogg–Dub{\'e} syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families},
  author={Arjan C. Houweling and Lieke M. C. Gijezen and Marianne A. Jonker and Martijn van Doorn and Rogier A. Oldenburg and Karin Y. van Spaendonck-Zwarts and Edward M. Leter and Theo A. M. van Os and Nicole van Grieken and Elisabeth H Jaspars and Maarten Th M De Jong and Ernie M. H. F. Bongers and Paul Christiaan Johannesma and Piet E. Postmus and R Jeroen A van Moorselaar and J-Htm van Waesberghe and Theo M. Starink and Maurice A. M. van Steensel and Johannes J. P. Gille and Fred H. Menko},
  booktitle={British Journal of Cancer},
Background:Birt–Hogg–Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. The main focus of this study was to assess the risk of renal cancer, the histological subtypes of renal tumours and the pneumothorax risk in BHD.Methods:In this study we present the clinical data of 115 FLCN… CONTINUE READING