▼ Summary
– A single sperm donor carrying a rare cancer-causing TP53 gene mutation has fathered at least 197 children across 14 European countries.
– Some of these children have already died, and many others are expected to develop deadly cancers due to the inherited condition.
– The donor carries a mutation in the TP53 gene, which normally produces a critical tumor-suppressing protein that prevents uncontrolled cell division.
– This inherited germline mutation causes Li Fraumeni syndrome, greatly increasing the risk of various cancers in childhood and young adulthood.
– The donor was unaffected by the condition himself, but the mutation was present in approximately 20 percent of his sperm.
A single sperm donor carrying a rare genetic mutation linked to cancer has fathered nearly 200 children across Europe, raising profound ethical questions about genetic screening and donor anonymity in the fertility industry. An extensive investigation by a consortium of European news outlets revealed that the man, identified as Donor 7069, has at least 197 biological children in 14 countries. Tragically, some of these children have already died from cancer, and many others face a significantly elevated lifetime risk of developing the disease.
The donor carries a specific mutation in the TP53 gene, which is responsible for producing a crucial protein known as p53. This protein acts as a master guardian of the genome, performing essential functions like halting uncontrolled cell division, initiating DNA repair mechanisms, and triggering programmed cell death when damage is irreparable. Mutations that disrupt p53’s function are a common feature in many cancers.
When such a mutation is inherited from a parent, it causes Li Fraumeni syndrome, a rare autosomal dominant condition. Individuals with this syndrome have a dramatically increased susceptibility to a wide range of cancers, often appearing in childhood or early adulthood. These cancers can affect the brain, blood, bones, soft tissues, adrenal glands, and breasts. The frequency of germline TP53 mutations in the general population is estimated to be quite low, occurring in roughly 1 in 5,000 to 1 in 20,000 people.
A particularly concerning aspect of this case is that while the donor himself showed no signs of Li Fraumeni syndrome, genetic analysis indicated the mutation was present in approximately 20 percent of his sperm. This means the harmful gene was passed on to an unknown number of his donor-conceived offspring. The investigation underscores critical gaps in international regulations, where rigorous genetic testing for such rare but devastating conditions is not universally mandated for sperm donors, potentially leaving hundreds of families unaware of inherited health risks.
(Source: Ars Technica)