In Memoriam

In Memoriam Thierry Frebourg

06_Frebourg_wbs.jpgOne of the founding fathers of ERN GENTURIS, Thierry Frebourg from Rouen in France, passed away on 13 March. His death was sudden and unexpected and has left the whole community of hereditary cancer in a state of shock. He will be deeply missed by his friends and colleagues all over the world. But our main thoughts go out to his family, who has lost their loved one.

Thierry was an esteemed clinician and scientist, and a world expert in Li-Fraumeni and heritable TP53 related cancer syndromes. His work has had - and will continue to have - a huge impact on the care of people and families with germline TP53 variants.

He was also an enthusiastic teacher with excellent pedagogical skills always eager to share his extensive knowledge with others. In his spirit ERN GENTURIS will therefore continue to spread knowledge about genetic tumour risk syndromes.

Thierry was Professor of Genetics and Head of the Department of Genetics at the University Medical Center in Rouen. He was also the director of the Inserm U1245 and of the Normandy Centre for Medical Genomics and Personalized Medicine in France.

He obtained his M.D. at Rouen University in 1986, his Ph.D. in Molecular Biology at the University of Paris VII in 1990 and did his post-doc at the Massachusetts General Hospital, Harvard Medical School in Boston. He worked as a clinical and molecular geneticist whose research focused on inherited forms of cancer, and more generally, on the interpretation of genomic variants.

Thierry participated in the writing of the French National Genomic Plan 2025 and he was active as the section editor in cancer genetics of the European Journal of Human Genetics. He has co-authored more than 500 publications in the field of medical genetics and molecular biology.

His research group combines clinical expertise with genomic technologies, bioinformatics, statistical analyses and functional analyses of genetic variants in cellular assays. Since 1995, his lab has been in charge of the molecular diagnosis of the Li-Fraumeni syndrome (LFS) and his team is strongly involved in the research on heritable cancers related to germline TP53 variants. Thierry coordinated within ERN GENTURIS the writing of the European guidelines for patients with heritable TP53-related cancers, which were published in 2020 ( see

The world has lost a great man, the scientific community has lost a brilliant colleague and we all lost a beloved friend. We will all truly miss this effervescent, highly enthusiastic and passionate exponent of expounding knowledge in genetic tumour risk syndromes. Thierry’s perpetual positive attitude, his keen wit and unforgettable laughs, and his drive to make an impact for our community will continue to endure as part of all who had the pleasure and privilege to have been his colleague and friend.

Elephant LFS_wbs.jpg

The elephant is the symbol of hope for the LFS community. Elephants have multiple copies of TP53, which might be one explanation for the low incidence of tumours in elephants. This picture was drawn by a French teenager patient suffering from LFS before she passed away. Thierry Frebourg had the permission from her mother to use this drawing in memory.


Links to lectures by Thierry Frebourg: