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European Sperm Donor with Rare TP53 Mutation Linked to 10 Cancer Cases in Children

The case has prompted calls for harmonized sperm donation regulations across Europe to prevent genetic disease dissemination.

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Overview

  • A sperm donor carrying a rare TP53 gene mutation, linked to Li-Fraumeni syndrome, fathered 67 children across eight European countries between 2008 and 2015.
  • At least 23 of these children inherited the mutation, with 10 already diagnosed with cancers such as leukemia and non-Hodgkin lymphoma.
  • The mutation was undetectable at the time of donation, highlighting limitations in genetic screening and the complexities of gonadal mosaicism.
  • Experts and organizations, including the European Sperm Bank, are advocating for stricter, unified regulations on donor usage to limit the number of families and children per donor.
  • Children carrying the mutation are undergoing intensive monitoring protocols, including whole-body MRI scans, to enable early cancer detection and improve outcomes.