Surveillance adherence and clinical findings in children with confirmed or familial TP53 variants: the Swedish multicenter constitutional TP53 study (SWEP53)

2026-07-07

Alexander Sun-Zhang *

Meis Omran

Joakim Wille

Torben Ek

Magnus Sabel

Niklas Pal

Trausti Oskarsson

Per Kogner

Gustaf Ljungman

Emma Tham

Svetlana Bajalica-Lagercrantz

DOI：10.1016/j.gim.2026.102643

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Li-Fraumeni Syndrome (LFS) is a cancer predisposition syndrome caused by germline TP53 variants. Guidelines recommend intensive surveillance from birth to enable early tumor detection. Pediatric adherence, germline testing behaviors, false-positive rates, and downstream work-up remain unstudied. Understanding these factors is essential to optimize surveillance and mitigate harm.

Keywords:

germline TP53

Li-Fraumeni syndrome

surveillance

adherence

false positive

Surveillance adherence and clinical findings in children with confirmed or familial TP53 variants: the Swedish multicenter constitutional TP53 study (SWEP53)

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