Association between Birt Hogg Dubé syndrome and cancer predisposition

Raffaele Palmirotta, Annalisa Savonarola, Giorgia Ludovici, Pietro Donah, Francesco Cavaliere, Maria Laura De Marchis, Patrizia Ferroni, Fiorella Guadagni

Research output: Contribution to journalArticlepeer-review


The Birt Hogg Dubé syndrome (BHD) is a rare autosomal dominant genodermatosis predisposing patients to developing fibrofolliculoma, trichodiscoma and acrochordon. The syndrome is caused by germline mutations in the folliculin (FLCN) gene, encoding the folliculin tumor-suppressor protein. Numerous mutations have been described in the FLCN gene, the most frequent occurring within a C8 tract of exon 11. This hypermutability is probably due to a slippage in DNA polymerase during replication, resulting in gains/losses of repeat units, causing cancer predisposition. The main phenotypic manifestations related to this disease are lung cysts, leading to pneumothorax, and a 7-fold increased risk for renal neoplasia, although other neoplastic manifestations have been described in BHD-affected individuals. Of particular interest is the often reported genotype/phenotype correlation between FLCN mutations and risk of colon or breast cancer. This paper describes our current knowledge on the association between BHD and cancer predisposition and briefly summarizes our experience in this field.

Original languageEnglish
Pages (from-to)751-758
Number of pages8
JournalAnticancer Research
Issue number3
Publication statusPublished - Mar 2010


  • Birt Hogg Dubé syndrome
  • Cancer predisposition
  • Folliculin
  • Review

ASJC Scopus subject areas

  • Cancer Research
  • Oncology


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