FLCN
Overview
FLCN (folliculin) is a tumor suppressor gene whose germline mutations cause Birt-Hogg-Dubé (BHD) syndrome, a hereditary condition predisposing to renal tumors (including chromophobe RCC), skin fibrofolliculomas, and pulmonary cysts. FLCN acts in the mTOR/AMPK signaling axis.
Alterations observed in the corpus
- Germline mutations cause Birt-Hogg-Dubé syndrome; 34% of BHD-associated kidney tumors are chromophobe RCC; FLCN is not somatically recurrent in sporadic ChRCC but is invoked as a pathway-convergence point PMID:25155756
- Referenced as a known germline kidney cancer predisposition gene in the context of non-clear cell RCC somatic profiling; not significantly mutated somatically in this cohort PMID:25401301
- 3 somatic mutations in AA CRCs (two frameshift, one nonsense), all consistent with inactivation; 0 in Caucasian CRCs (P=0.086); germline FLCN mutations cause Birt-Hogg-Dubé syndrome; proposed as an AA-specific CRC driver PMID:25583493
Cancer types (linked)
- Chromophobe renal cell carcinoma (CHRCC): pathway-level relevance via BHD syndrome germline context.
Co-occurrence and mutual exclusivity
Therapeutic relevance
Open questions
Sources
This page was processed by crosslinker on 2026-05-14. - PMID:25401301
This page was processed by crosslinker on 2026-05-14. - PMID:25583493
This page was processed by crosslinker on 2026-05-14.