How a rare cancer gene spread across Europe

By Flori Bruqi

How a rare cancer gene spread across Europe In 2023, a donor at a Danish sperm bank was found to carry a genetic mutation that can cause childhood cancer. An investigation by DW and European partners reveals that some parents were not informed. When the woman's phone rang one June morning, she had no idea that the news would plunge her and her teenage daughter into a "labyrinth" of doctor visits, tests and fear. On the other end of the line, she said, was the head of the fertility department from a Belgian clinic she had visited in 2011 to undergo fertility treatment. At the time, this option was not available in France for single women who wanted to become mothers. After her daughter was successfully conceived, she said, she never heard from the Belgian clinic again. The caller told her that the sperm donor she had used to conceive her daughter carried a rare genetic mutation in the TP53 gene. In its unmutated form, TP53 inhibits cancerous growth; but its mutated form is associated with a high, lifelong risk of multiple cancers—many of which can develop at a very early age. The caller said there was a 50% chance that her daughter would inherit the mutation, for which there is no cure or treatment. She was told it was “urgent” that she should have her daughter tested for the mutation. “It was a shock,” said the woman, who asked to remain anonymous. “I didn’t understand anything.” She would soon learn that her daughter was indeed a carrier of the genetic mutation. In fact, after the mutation was discovered in his samples, the donor was permanently blocked in October 2023 by the European Sperm Bank (ESB), which had sold the sperm. Although the clinic claims to have contacted the woman “as soon as possible,” it told her that it received the call a year and a half after ESB discovered the mutation because it had migrated its computer system and initially lost her contact details. Sperm Donor 7069 Coordinated by the EBU Investigative Journalism Network, an investigation by DW and several other European public broadcasters reveals that for more than 15 years, women in at least 14 countries in Europe and elsewhere were sold sperm from donor 7069. From Iceland to Albania and beyond, at least 197 children were conceived with sperm from donor 7069, the investigation shows. It is possible that the number is much higher – ESB has not yet revealed the total number of children conceived with his sperm. And so doctors are unable to say whether everyone has been tested at this point. Thus, a rare and potentially fatal genetic mutation was sold to families across Europe. Some of the children conceived with sperm from the same donor have already developed two different types of cancer; others “have already died,” said Edwige Kasper, a biologist specializing in genetic predispositions to cancer. She is counseling some of the affected families. Legally, the sperm bank is obliged to notify all fertility clinics to which it has exported gametes of any genetic abnormalities that arise. The clinics, in turn, inform the parents. And yet, DW and its partners have learned of several cases of families who were never officially informed that their children might be carriers. ‘A big disappointment’ Dorte Kellermann, a single mother living in Denmark, said she learned about the case in November 2023 from another parent who had used the donor. She told DW and her partners that she had not been contacted by either the sperm bank or the fertility clinic she had used. And, she said, she was aware of other families – single mothers – who had used the same donor and who were connected through a private Facebook group. The former director of the clinic Kellermann had used said he could not comment on individual cases. Although DW is unable to verify each of the Facebook group’s accounts, they are consistent with those of doctors and reports issued by health authorities across Europe. Dr. Svetlana Lagercrantz, who specializes in hereditary cancers, told the Danish Broadcasting Corporation, one of DW’s partners in the investigation, that some of her patients in Sweden had never been contacted. She said they had only learned about the mutation through media reports. It was, she said, “a huge disappointment.” In fact, it took a meeting of hereditary cancer experts in 2024 to understand the extent of the problem. Lagercrantz said a French colleague was talking about patients who had inherited the TP53 mutation from their sperm donor. Suddenly, she said, doctors across Europe realized that what they had assumed