Table 7.

Recommended LFS screening protocol (based on the Toronto protocol)

Children (birth to 18 years)
General assessment	Complete physical examination and blood tests every 3–4 months (blood-test: * 17-OH-progesterone, total testosterone, dehydroepiandrosterone sulfate, Androstenedione, complete blood count, erythrocyte sedimentation rate, lactate dehydrogenase; 24h urine cortisol, if feasible)
Brain tumor	Annual brain MRI (first MRI with contrast; thereafter without contrast if previous MRI normal and no new abnormality)
Soft tissue and bone sarcoma	Annual whole body MRI
Adrenocortical carcinoma	US of abdomen and pelvis every 3–4 months
Adults
General assessment	Complete physical examination and blood tests every 3–4 months (blood-test: * 17-OH-progesterone, total testosterone, dehydroepiandrosterone sulfate, Androstenedione, complete blood count, erythrocyte sedimentation rate, lactate dehydrogenase; 24h urine cortisol, if feasible)
Breast cancer  (age 18 years onward)	Breast awareness (age 18 years onward) Clinical breast examination twice a year (age 20 years onward) Semi-annual breast sonography (age 20 years onward) Annual breast MRI screening (ages 20–75) Consider risk-reducing bilateral mastectomy
Soft tissue and bone sarcoma  (age 18 years onward)	Annual whole body MRI US of abdomen and pelvis every 3–4 months
Brain tumor  (age 18 years onward)	Annual brain MRI (first MRI with contrast; thereafter without contrast if previous MRI normal)
Gastrointestinal cancer  (age 25 years onward)	Upper endoscopy and colonoscopy every 2–5 years
Melanoma  (age 18 years onward)	Annual dermatologic examination

Adapted by Villani et al. [26, 27, 33]

Large scale surveillance protocol (based on the Toronto protocol) is recommended for individuals with a pathogenic TP53 germline mutation, which is associated with enormously psychological discomfort. However the wide adoption of next-generation sequencing (NGS) panels has led to a considerably higher prevalence of TP53 mutations in the context of hereditary breast and ovarian cancer, whereof many individuals with TP53 mutations lack classic personal or family history of LFS-related cancers. The clinical challenge is to define a subgroup of TP53-mutation carriers for whom the screening recommendation should differentiate from the classic LFS-families

MRI magnetic resonance imaging, US ultrasound