ERN-GENTURIS guideline summary: Surveillance protocol in carriers of germline disease-causing TP53 variants

ERN-GENTURIS guideline summary: Surveillance protocol in carriers of germline disease-causing TP53 variants

Exam	Periodicity	Age to start	Age to end	Select clinical indications
Clinical examination with, in children, specific attention to signs of virilization or early puberty and measurement of blood pressure and, in patients who received radiotherapy, to occurrence of basal cell carcinomas within the radiotherapy field	Every 6 months	Birth	17 years
	Annual	18 years	Indefinite
Whole-body MRI without gadolinium enhancement	Annual	Birth	Indefinite	High cancer risk TP53 variant* or patient previously treated by chemotherapy or radiotherapy
Whole-body MRI without gadolinium enhancement	Annual	18 years	Indefinite
Breast MRI	Annual	20 years	65 years
Brain MRI^¶	Annual	Birth	18 years	High cancer risk TP53 variant
Brain MRI^¶	Annual	18 years	50 years
Abdominal ultrasound	Every 6 months	Birth	18 years
Urine steroids	Every 6 months	Birth	18 years	When abdominal ultrasound does not allow a proper imaging of the adrenal glands
Colonoscopy^¶	Every 5 years	18 years	Indefinite	Only if the carrier received abdominal radiotherapy for the treatment of a previous cancer or if there is a familial history of colorectal tumors suggestive of an increased genetic risk

MRI: magnetic resonance imaging.
* A germline disease-causing TP53 variant should be considered as "high risk" if the index case has developed a childhood cancer; or childhood cancers have been observed within the family; or this variant has already been detected in other families with childhood cancers; or this variant corresponds to a dominant-negative missense variant.
¶ The first scan should be conducted with intravenous gadolinium enhancement; in children, brain MRI should alternate with the whole-body MRI, so that the brain is imaged at least every 6 months.

Adapted from: Frebourg T, Bajalica Lagercrantz S, Oliveira C, et al. Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes. Eur J Hum Genet 2020; 28:1379. Available at: https://www.nature.com/articles/s41431-020-0638-4. Copyright © 2020 The Authors. Reproduced under the terms of the Creative Commons Attribution License 4.0.

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