Table 5.

Screening recommendations for patients with GS

Tumors	Methods for screening	Indications for PTCH1 variants carriers	Indications for SUFU variants carriers
BCC	Dermatologic examination	Annually beginning at 10 Earlier if previous radiotherapy	Annually beginning at 20 Earlier if previous radiotherapy
KCOT	Dental examination Orthopanthogram (consider MRI)	Annually beginning at 2 Annually beginning at 8
Medulloblastomas	Brain MRI (without contrast agent) The first can be performed with a contrast agent	Neurological examination. Brain MRI, only if symptoms or neurological signs appear	Every 3–4 months during the first 3 years then every 6 months until 5 years
Meningioma	Brain MRI		Every 3–5 years beginning at age 30 for patients with no previous MB and after healing of the MB in other patients
Ovarian tumors	Pelvic ultrasound	Once at the end of adolescence (18 years)	Every 3 years beginning at age 5 years
Cardiac fibroma	Echocardiogram	At the time of diagnosis of GS, ideally in the first 6 months of life	At the time of diagnosis of GS, ideally in the first 6 months of life