Sperm donor with rare cancer mutation fathered nearly 200 children in Europe

"When a p53 mutation is passed down in sperm (a germline mutation), it causes a rare autosomal dominant condition called Li Fraumeni syndrome, which greatly increases the risk of a variety of cancers in childhood and young adults. Those include cancers of the brain, blood, bone, soft tissue, adrenal glands, and breast, among others. The estimated frequency of this type of mutation is between 1 in 5,000 and 1 in 20,000 ."

"The man-Donor 7069, alias "Kjeld"-carries a rare mutation in the gene, which codes for a critical tumor suppressor called protein 53 or p53. This protein (which is a transcription factor) keeps cells from dividing uncontrollably, can activate DNA repair processes amid damage, and can trigger cell death when a cell is beyond repair. Many cancers are linked to mutations in p53."

A single sperm donor has fathered at least 197 children across 14 European countries. The donor carries a germline mutation in the TP53 gene that impairs the p53 tumor suppressor. p53 is a transcription factor that limits uncontrolled cell division, activates DNA repair, and triggers cell death when damage is irreparable. A germline p53 mutation causes Li-Fraumeni syndrome, an autosomal dominant disorder that markedly elevates cancer risk in childhood and young adulthood. Associated cancers include brain, blood, bone, soft tissue, adrenal gland, and breast cancers. The mutation frequency is estimated between 1 in 5,000 and 1 in 20,000. The donor was asymptomatic, but about 20 percent of his sperm carried the mutation, and some children have already died while many others face elevated cancer risk.

Read at Ars Technica