TP53 sperm donation - Jun 2024

Project title:
Genetic counselling following recurrent sperm donation from a mosaic TP53 carrier

Project leaders:
Edwige Kasper (CHU Rouen)

Contributing ERN GENTURIS centres:
Ghent University Hospital (Belgium), Aarhus Universitets Hospital (Denmark), Rigshospitalet Copenhagen (Denmark), Medizinisch Genetisches Zentrum München (Germany), Karolinska University Hospital Stockholm (Sweden).

Project Description:

The French network was alerted by requests for genetic counselling regarding the TP53:c.325T>A,p.(Phe109Ile) variant, in children conceived from donated sperm. The European Reference Network GENTURIS identified identical situations across Europe. All sperm donations came from the same private Danish bank, which could not provide any information.

We reclassified this VUS as likely pathogenic based on population and functional evidence. We analysed 41 families across Europe: 15 in Denmark [PMID:39317423], 10 in France, 8 in Sweden, 6 in Belgium, one in Germany and one in England.

Among these families, 58 children were tested, 18 were carrying the heterozygous TP53 variant and benefited from LFS surveillance based on annual WB-MRI. 6 children were diagnosed with cancer.

Start date: 1 June 2024

Duration: TBD