Sperm donor with rare genetic mutation fathered 197 children, some diagnosed with cancer, reports BritPanorama.
A sperm donor identified as having a rare genetic mutation has fathered at least 197 children across Europe, leading to significant health concerns as several of the offspring have been diagnosed with cancer, according to a recent investigation. The donor was previously reported to have fathered at least 67 children in eight countries, but new findings indicate the actual number is substantially higher.
The donor possesses a mutation in the TP53 gene, which is associated with Li-Fraumeni syndrome, a hereditary condition that markedly elevates the risk of various cancers. Despite being healthy himself, he was unaware of his mutation when making these donations.
The investigation, led by the BBC and involving 14 European public service broadcasters, utilized freedom of information requests and interviews with healthcare professionals and families to uncover the expanded figure of affected children. The donor’s sperm was provided to a single bank in Denmark, the European Sperm Bank (ESB), but distributed to 67 clinics across 14 countries, complicating data collection regarding the total number of affected children.
While it remains unclear exactly how many of the children inherited the mutation, it is noteworthy that individuals with Li-Fraumeni syndrome face a 90% likelihood of developing cancer by the age of 60, with many at risk of early-onset cancers.
During a presentation at an annual genetics conference in May, biologist Edwige Kasper revealed that among the 67 initially identified children, 10 were diagnosed with cancers including brain tumors and Hodgkin lymphoma. Another 13 were known to carry the TP53 mutation but had yet to develop cancer.
These children will require ongoing medical monitoring to mitigate their elevated cancer risk and face a 50% chance of passing the mutation to their own offspring. Clare Turnbull, a cancer genetics professor, emphasized the gravity of a Li-Fraumeni diagnosis, highlighting the persistent cancer risk across the individual’s lifetime.
The case is described as a “highly unfortunate coincidence” of the donor’s rare genetic mutation coinciding with the extensive use of his sperm. Mary Herbert, a reproductive biology professor, stressed the urgent need for enhanced genetic screening protocols for sperm donors and stricter regulations concerning the number of children conceived from a single donor.
This incident has raised profound questions about the regulatory frameworks governing sperm donation practices across Europe. Julie Paulli Budtz from ESB expressed the organization’s deep concern regarding the implications of the TP53 mutation and underscored the necessity for common, transparent European standards in reproductive health.
As discussions regarding donor regulations continue, this case serves as a crucial reminder of the complexities involved in reproductive genetics and the importance of safeguarding public health.
