Overview

• A sperm donor carrying a TP53 mutation, associated with Li-Fraumeni syndrome, fathered 67 children, with 23 confirmed carriers and 10 cancer diagnoses, including leukemia and lymphoma.
• The mutation, linked to early-onset cancers, was undetectable in 2008 due to gonadal mosaicism and limitations in standard screening methods at the time.
• The European Sperm Bank has halted further use of the donor’s gametes and notified clinics, though concerns remain about the actual number of offspring due to fragmented oversight.
• Experts are advocating for harmonized international regulations, including strict donor offspring limits and centralized registries to prevent genetic disease dissemination.
• Affected children face intensive surveillance protocols, including whole-body MRIs, to manage cancer risks while avoiding radiation-based imaging that could accelerate tumor growth.