There is no data on the frequency of FLCN heritable (germline) mutations in unselected, population-based series of cancer of the kidney, however the incidence is low. Data are only available from studies where patients have been ascertained on the basis of presenting with manifestations clinically suggestive of BHD (probands) and then cascade testing of at risk relatives (carriers). The frequency of heritable mutations in FLCN is dependent on kidney cancer pathology (hybrid oncocytic tumours, oncocytomas and chromophobe renal cancers in particular) and the presence of pulmonary and dermatologic features of BHD.
A de novo mutation in FLCN has been reported, but this is thought to be rare.
||Probability of detecting a heritable mutation
|Clinical features satisfying BHD consortium criteriar
|Multiple basally located lung cysts of undetermined cause
|Primary spontaneous pneumothorax
|Patient has a first or second degree relative with documented pathogenic mutation
|Abbreviation * sequencing only