Le mardi 11 février 2025, Madame Maria Valeria FREIRE CHADRINA, titulaire d’un diplôme de medica cirujana (La Pontificia Universitad Catolica del Ecuador) et d’un Certificat de formation à la recherche en sciences médicales, présentera l'examen en vue de l'obtention du grade de Doctorat en sciences médicales, sous la direction de Monsieur Vincent BOURS.

Cette épreuve consistera en la défense publique d'une thèse intitulée : «Genetic evaluation of young adults with cancer». 

Le jury sera composé de :

Ingrid STRUMAN (Présidente), Pierre FRERES (Secrétaire), Vincent BOURS, Kathleen CLAES (UGent), Yvette HABRAKEN, Marjolijn LIGTENBERG (Radboud University), Brieuc SAUTOIS.

Résumé de la thèse

The oligogenic coinheritance of pathogenic variants (PVs) in cancer-related genes remains poorly studied. Currently, due to the increment of cancer survivorship and next generation sequencing (NGS) methods, we can identify patients with multiple primary cancers (MPCs) and germline variants in several cancer predisposition genes.

Our study included young MPCs patients and patients with single or MPCs and multiple PVs. 

Twelve patients with MPCs were included in the study and presented a mean of 3 cancers per patient. WES of the germline DNA identified 1-3 variants possibly related to the disease in each patient, and most of them were classified as variants of uncertain significance. Additionally, four patients from three MPCs families who coinherited PVs in BRCA2 and ATM genes, and three patients with metastatic colorectal cancer that were heterozygous for a previously known BRCA1 nonsense variant were studied.

DNA sequencing of patients with early cancers, or multiple tumors is already a standard of care. However, a growing evidence suggests that patient´s assessment should not stop at the identification of one pathogenic variant in a cancer predisposition gene.