Dr. Thierry Frebourg, MD, PhD, based at the Normandy Centre of Genomic and Personalized Medicine at the Rouen University Hospital, is a leading researcher for Genetic Tumour Risk Syndromes in the European Reference Network – ERN GENTURIS, and is the primary contact for the rare hereditary genetics program.
As chapter chair of the LFS Association – France, Dr. Frebourg held the first LFS family conference in his home country in September 2018.
Dr. Frebourg is a contributing author on the recently published guidelines for LFS screening on behalf of the ERN GENTURIS in the European Journal of Human Genetics. Inspired by LFS Association – Canada Chapter Co-chair Dr. David Malkin’s “Toronto Protocol” and the guidelines used in the United States, Dr. Frebourg and his European counterparts have provided a modified screening protocol – the main difference is the development a more stratified follow-up regimen in order to integrate the diversity of the clinical presentation associated with germline TP53 alterations and the incomplete and variable penetrance of TP53 variants. The aim of these TP53 guidelines is to homogenize and facilitate the clinical management of TP53 variant carriers in Europe, as this management is in European countries heterogeneous. The guidelines include 3 parts: (i) Who should be tested for TP53; (ii) when pre-symptomatic testing should be performed and (iii) which medical follow-up regimen should be offered to TP53 variant carriers. It is hoped that these guidelines can be applied for most TP53 variant patients throughout the different health care organizations in Europe.
These guidelines have been presented at virtual meeting of the European Society of Human Genetics in the spring of 2020.
Dr. Thierry Frebourg
Department of Genetics
Rouen University Hospital
Inserm U1245, IRIB
Normandy Centre for Genomic and Personalized Medicine
Faculty of Medicine
22 Boulevard Gambetta
76183 Rouen Cedex, France
Phone: 33 2 32 88 81 82
Fax: 33 2 32 88 80 80
Learn more about ERN GENTURIS.