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. 2022 Jun 29;59(11):1123–1132. doi: 10.1136/jmedgenet-2021-108385

Table 3.

Screening recommendations for patients with SUFU germline pathogenic variations

Tumours Methods for screening Surveillance recommendations in carriers of germline SUFU variants (periodicity, age to start and to end)
BCC Dermatological examination Annually
  • beginning at age 20 years

  • earlier if previous radiotherapy

Medulloblastoma Brain MRI without contrast agent except for the first MRI 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 years for patients with no previous MB

  • after healing of the MB in other patients

Ovarian tumour Pelvic ultrasound 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

BCC, basal cell carcinoma; GS, Gorlin syndrome; MB, medulloblastoma.