Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
Léa Guerrini-RousseauJulien Masliah-PlanchonSebastian M WaszakPia AlhopuroPatrick R BenusiglioFranck BourdeautInes B BrechtGiada Del BaldoSandeep Kumar DhandaMaria Luisa GarrèCorrie E M GiddingSteffen HirschPauline HoarauMette JorgensenChristian KratzLucie Lafay-CousinAngela MastronuzziLorenza PastorinoStefan M PfisterChristopher SchroederMiriam Jane SmithPia VahteristoRoseline VibertCatheline VilainNicolas WaespeIngrid M WinshipD Gareth EvansLaurence BrugieresPublished in: Journal of medical genetics (2022)
PV carriers have a life-long increased risk of tumours with a spectrum dominated by MB before the age of 5, gonadal tumours during adolescence and BCC and meningioma in adulthood, justifying fine-tuned surveillance programmes.