Důležité upozornění pro tkáňová zařízení – centra asistované reprodukce

Case description: Pineal germinoma in a donor child. Previously no genetic investigation, but now we have results of an exome sequencing, showing a pathogenic variant in the ATM gene, but without any association to the diagnosed tumor. The finding may be classified as a secondary or chance finding. The donor has been under investigation, and the results have shown a heterozygous variant in the ATM gene, called: NM_000051.4:c.3994-2A>G. Risk assessment: Heterozygous variants in the ATM gene significantly increase the lifetime risk of cancers, particularly breast, prostate, and pancreatic cancers, compared to the background population. The current Danish recommendations for female carriers of pathogenic variants in the ATM gene, are enrolment in breast cancer screening from the age of 40. Homozygous variants in the ATM gene lead to Ataxia-Telangiectasia, a neurologic disease with progressive loss of function. Heterozygous ATM carriers will not be affected by Ataxia-Telangiectasia. 1:100 to 1:250 in the general population is a carrier of Ataxia-Teleangiectasia. Children of this donor have a 50% risk of having the mutation in the ATM gene. We recommend that donor children conceived by the help of gametes from donor 8027/Trols are referred for genetic counselling when they reach the legal age. Conclusion: A pathogenic variant in the ATM gene in a donor does confer an increased risk to the donor’s offspring; therefore, his gametes are to be permanently blocked.