Analyses of genomic and transcriptomic profiles of metastatic tumors from precision medicine clinical trials
- Authors
- Publication Date
- Feb 14, 2024
- Source
- HAL-Descartes
- Keywords
- Language
- English
- License
- Unknown
- External links
Abstract
In the era of extensive data analysis, insights into cancer onset and progression have deepened through molecular analysis of numerous tumors globally. Next-generation sequencing, emerging in the 2000s, transformed cancer cell investigation by enabling exome, transcriptome, and now whole genome profiling. While high-throughput sequencing has not yet entered clinical pratice for all, it is commonly used in trials. The vast data pool thus generated fuels many research areas which contribute to precision oncology advancements. This thesis explores cancer patient cohort analysis and modern oncology tools. The first chapter covers cancer biology fundamentals, emphasizing molecular profiling's evolving role in treatment and research. The second chapter reviews computing tools and databases for sequencing data analysis. These chapters set the stage for the third chapter, focusing on the META-PRISM cohort, comprising 1,031 patients from precision medicine trials at Gustave Roussy. It highlights the molecular specificities of refractory and the promises of predictive modeling based on high-throughput sequencing data. The fourth chapter delves into known and emerging treatment resistance markers in the META-PRISM cohort and two recent clinical studies, revealing target alterations and alternative pathway activations as key resistance factors.
