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Rare cancer gene found in sperm donor sparks European regulatory concerns

  • A sperm donor in Europe was identified as carrying a cancer-associated TP53 gene mutation linked to Li-Fraumeni syndrome, affecting children born in multiple countries over several years from 2008 to 2015.
  • The discovery followed reports of 67 tested children from 46 families, with 23 carrying the variant and 10 diagnosed with childhood cancers like leukemia and lymphoma, prompting a multinational investigation.
  • Researchers led by Dr. Edwige Kasper at Rouen University Hospital used population databases, prediction tools, and functional tests to assess the variant, coordinating with European genetic networks under GENTURIS.
  • The donor began giving sperm before mosaicism detection techniques existed, while varying national laws limit births per donor from 10 in France to 15 in Germany and Denmark, highlighting regulatory fragmentation in Europe.
  • This case has exposed cross-border regulatory gaps, underscoring calls for harmonized European or international oversight to limit donor offspring numbers and improve genetic risk management.
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Medical Xpress broke the news in on Friday, May 23, 2025.
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