Rare cancer syndrome now has European guidelines

As a result of almost four years of work by the European Reference Network (ERN) GENTURIS and the Porto.Comprehensive Cancer Center (i3S and IPO-Porto, associated with the Centro Hospitalar e Universitário São João) - the first European guidelines were recently published for the diagnosis, surveillance, and treatment of the rare hereditary cancer syndrome Li-Fraumeni syndrome, which is caused by germline mutations of the TP53 gene. The article published in the European Journal of Human Genetics represents the answer to one of the main commitments of the European Reference Networks, which is to standardize healthcare at the European level for rare diseases.

Carla Oliveira, Portuguese representative of Porto.CCC at GENTURIS (a European network that brings together professionals working in hereditary cancer) explains that “there were no European guidelines for surveillance and treatment of this rare syndrome and for the disease that causes it, among other cancers, aggressive cancers in children and breast cancer in young women, often recurrent and fatal”.

So far, the group leader said, “we used American guidelines in the European Union, but the realities are very different. These guidelines are the result of the work of researchers, clinicians and patient organizations in the European Union and are adapted to the reality of European health services”.

These guidelines will be presented to the scientific community next week, in a dedicated workshop of the European Society of Human Genetics, and then translated into various European languages with the potential to be adopted by the government entities of each country. In Portugal, this translation process will have the seal of the Portuguese Society of Oncology (SPO) and the Portuguese Society of Human Genetics.

Within the GENTURIS consortium researcher Carla Oliveira leads a project of diffuse hereditary gastric cancer (HDGC) within the scope of the Solving Rare Diseases Project (Solve-RD), which was funded by the European Commission, through Horizon 2020, with 250 thousand euros.