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Interpretation 210
Tier 1
FLCN
Variants
FLCN any mutation
Primary Sites
Kidney
Tumor Types
Renal Cell Carcinoma
Interpretation

FLCN gene mutations cause Birt-Hogg-Dubé (BHD), a hereditary renal cancer syndrome. A classic triad of findings characterizes BHD, which includes cutaneous fibrofolliculomas, pulmonary cysts, and renal tumors. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown, although FLCN has been linked to the mTOR pathway. Somatic second-hit mutations identified in BHD-associated renal tumours are consistent with a tumour-suppressor function for FLCN. Individuals with BHD have about a 34% lifetime risk for renal cancer, most frequently diagnosed in the fifties. Additionally, male FLCN mutation carriers are twice as likely to be affected as female carriers. Approximately 50% of BHD-related renal tumors manifest as a chromophobe/oncocytic hybrid: 34% chromophobe, 9% clear cell, 5% oncocytoma, and 2% papillary.

Citations
  1. Vocke CD, et al. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors. J Natl Cancer Inst 2005;97(12):931-5
  2. Menko FH, et al. Birt-Hogg-Dube syndrome: diagnosis and management. Lancet Oncol 2009;10(12):1199-206
Last updated: 2016-01-20 21:20:16 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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