Assistant professor
Department of Pediatrics
Faculty of Medicine

Dr. Mathias Cavaillé is a medical geneticist specializing in oncogenetics. A clinician-researcher funded by the FRQS, head of the oncogenetics department at the CHU of Quebec, and associate professor at Laval University, Dr. Cavaillé is also responsible for the genotyping platform at the Research Centre of the CHU of Quebec.

He trained in medical genetics during his internship and residency (2012–2020), particularly in clinical and molecular oncogenetics at the Jean Perrin Centre (Clermont-Ferrand, France). Responsible for consultations and scientific lead in oncogenetics at the Jean Perrin Centre (2022–2023), deputy director and then director of the Biological Resources Centre at this centre (2018–2023), he completed his medical training with scientific education (PhD in 2021) and various university courses (D.I.U. in oncogenetics, pedagogy).

His thesis work focused on exploring new hereditary cancer risks through constitutional exome analysis and by integrating sequencing of extended gene panels, including candidate genes for hereditary cancer predisposition, into clinical care. This notably led to the identification of BCL2L11 as a new candidate gene for hereditary predisposition to non-medullary thyroid cancer.

He also established and coordinated integrated genomic analyses in oncogenetics as part of the France Medicine Genomics 2025 Plan, resulting in a publication in The Lancet Public Health, and participated in a French national study assessing the integration of polygenic risk scores into breast cancer risk management in oncogenetics.

Dr. Mathias Cavaillé’s current research focuses on three main areas: 1) integrating polygenic risk scores into breast cancer risk stratification in clinical oncogenetics for women with genetic or familial cancer risk; 2) characterising genetic variations in oncogenetics within the Canadian-French population to better define risks and the spectrum associated with these variants for more personalised management; 3) identifying new hereditary cancer predisposition genes through integrated analysis of constitutional and tumour genome sequencing, as well as transcriptomics.