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

Antonetta C. Houweling, L. M. Gijezen, M. A. Jonker, M. B. A. van Doorn, Rogier A. Oldenburg, K. Y. van Spaendonck-Zwarts, E. M. Leter, Theo A. Mvan Os, Nicole C T van Grieken, E. H. Jaspars, M. M. de Jong, Ernie M. H. F. Bongers, Paul C. Johannesma, Pieter E. Postmus, R. Jeroen A. van Moorselaar, J-H T. M. van Waesberghe, Theo M. Starink, M. A. M. van Steensel, Johan J. P. Gille, Fred H. Menko*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Abstract

BACKGROUND: Birt-Hogg-Dube (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 mutation carriers from 35 BHD families. RESULTS: Among 14 FLCN mutation carriers who developed renal cancer 7 were
Original languageEnglish
Pages (from-to)1912-1919
JournalBritish Journal of Cancer
Volume105
Issue number12
DOIs
Publication statusPublished - 6 Dec 2011

Keywords

  • Birt-Hogg-Dube syndrome
  • folliculin
  • fibrofolliculoma
  • renal cancer
  • discoid fibroma
  • pneumothorax

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