Reacción a "Reactions to the case study of a person who has survived twelve tumours"

This case shows the importance of the work of family cancer units, and in particular underlines the quality of the work carried out by the CNIO Family Cancer Unit. It is a type of research that combines the immediate application for patients and their families, as can be seen in this magnificent and exhaustive work by Carolina Villarroya, Marcos Malumbres, Miguel Urioste, Sandra Rodríguez and other CNIO researchers, and the benefit for society as a whole. We know that approximately 10% of tumours are hereditary, and of these only 30-40% of the genes responsible are known. So advancing knowledge in this area is crucial, and that is what we are doing at the CNIO. 

Since 2005, the CNIO Family Cancer Unit has provided genetic counselling to more than 5,000 patients and families. And so far this year 2022 alone, the number of consultations it has attended has increased by 70%. Nearly 650 patients have been seen in the 9 months of 2022. 20% of these cases are related to relatives of patients with an identified mutation, second opinions or complicated cases in which there are doubts about the genetic diagnosis, from Madrid and other regions. In addition, at the CNIO we carry out genetic studies when a hereditary cancer syndrome is suspected and new hereditary cancer genes have already been identified and are quickly studied in clinical trials to help families. 

In other words, what is learned thanks to people like the one who is the protagonist of the work published today in Science Advances benefits us all. At the CNIO we provide innovative technologies to the National Health System and the scientific community; we collaborate with hospital services by evaluating and offering genetic counselling to patients and families; and we carry out genetic studies when a hereditary cancer syndrome is suspected. We have already identified new hereditary cancer genes that are rapidly being studied in clinical trials to help families. 

It is also very important to ensure that the results of this research are incorporated into the clinic as soon as possible, so that they reach all patients regardless of where they live, whether they are in a large city or in a peripheral town. And this also requires the communication of science.