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Birt-Hogg-Dubé syndrome is an inherited condition, caused by a fault in the FLCN gene, that causes small skin bumps, lung cysts that can collapse a lung, and a raised risk of kidney cancer. Kidney scans every one to two years from age 20 are recommended to find kidney tumours early.
Autosomal dominant; constitutional pathogenic FLCN variants predispose to fibrofolliculomas, pulmonary cysts with spontaneous pneumothorax, and renal cell carcinoma, including hybrid oncocytic and chromophobe types (NCI PDQ). Pooled data from 204 families estimated renal tumour risk to age 70 at 19% in men and 21% in women, lung involvement 87% and 82%, and skin lesions 87% and 78% (Bruinsma 2023).
The 2024 ERN GENTURIS guideline: every FLCN variant should be treated as raising renal tumour risk; renal surveillance from age 20, every one to two years, life-long, preferably by MRI (ultrasound if MRI is unavailable); a multidisciplinary approach; and recommendations for treating skin, lung and kidney manifestations. Evidence for surveillance of other tumours is limited.
In plain words · FLCN (Folliculin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma, Colorectal cancer, Gastric & gastro-oesophageal junction cancer and 3 more.
Showing the target this term concerns: FLCN.
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