Les syndromes de prédisposition génétique au cancer en pédiatrie: Développement d'approches innovantes visant l'identification précoce et l'évaluation de l'impact de ces syndromes sur l'évolution du cancer de l'enfance à l'âge adulte


Catherine Goudie

Centre universitaire de santé McGill [CUSM]


Domaine : cancer

Programme Chercheurs-boursiers cliniciens - Junior 1

Concours 2018-2019

When a child is diagnosed with cancer, one of the first questions asked is, why? In more than 10% of cases, the answer is that they have a cancer predisposition syndrome (CPS), a genetic disorder that heightens the risk of developing cancers throughout life. This is critical to identify, as it may impact their treatment, identify the need to watch for other cancers, and point to other family members who are at risk for cancers. Multiple challenges limit a physician's ability to recognize the association between a child's cancer and a CPS, leading to an underestimation of their importance, and compromising the progress of our knowledge on their clinical evolution and optimal cancer management.

In this context, I propose to lead a research program focused on cancer predisposition syndromes that present in children and adolescents, aiming to 1) optimise the clinical approach to rapid recognition and diagnosis of these genetic disorders, and 2) better define the consequences of these genetic conditions on the outcomes of patients with cancer, specifically in relation to the risk factors for the development of secondary cancers. In order to do this, I will collaborate with the Pediatric Oncology and Genetic centres in Canada to compile and study the clinical outcomes of children and families with cancer predisposition syndromes. I will develop an electronic application to facilitate the dissemination of the knowledge gained from this research program.

This research will inform doctors and researchers on the best strategies to identify cancer susceptibility syndromes and to study their impact on the clinical evolution of children into adulthood. Ultimately, the goal is to give children with a CPS and their families the opportunity to be identified, diagnosed, and treated appropriately.