Birt–Hogg–Dubé syndrome

Excerpt

Birt–Hogg–Dubé (BHD) syndrome is a rare autosomal dominant disorder associated with renal cysts and cancer, lung cysts, pneumothorax and skin fibrofolliculomas. The disease is caused by germline mutations in the FLCN gene located on chromosome 17p11.2 that result in loss of function of the tumor suppressor, folliculin. While the genetic basis of BHD has been well established, the biochemical and signaling functions of FLCN remain incompletely understood. To address this knowledge deficit, the Myrovlytis Trust and BHD Foundation have conducted annual meetings over the past 5 years to promote scientific interaction between scientists and clinicians interested in BHD. The Fourth Annual BHD meeting took place in March 2012 in Cincinnati, Ohio. This special issue of Familial Cancer summarizes the new data presented and the status of knowledge discussed at the meeting, from both the basic and clinical perspective. The authors provide an overview of the currently understood functions of FLCN, as well as recommendations for detection and treatment of BHD. …