Evaluating Mutational Signatures from Circulating Tumor DNA: A Comparative Analysis with Whole-Genome Sequencing

Cancer leaves behind unique mutation patterns, known as mutational signatures, which provide insights into its origins and potential treatments. Traditionally, these signatures are identified using tumor tissue samples, but obtaining biopsies can be invasive and challenging. A promising alternative is circulating tumor DNA (ctDNA)—small fragments of tumor DNA found in the blood. Liquid biopsies offer a less invasive way to study cancer mutations, but it remains unclear whether they capture the same mutational signatures as traditional tissue sequencing.

This project aims to compare mutational signatures derived from ctDNA and whole-genome sequencing of tumor tissue to assess their concordance. By analyzing data from both sources, we will determine whether ctDNA can reliably replace tissue biopsies for mutational signature analysis. If successful, this approach could improve non-invasive cancer detection and monitoring, reducing the need for surgical biopsies. The findings may also enhance computational tools for analyzing ctDNA, making cancer diagnostics more accessible and precise. Ultimately, this research brings us closer to personalized and less invasive cancer care, using simple blood tests to decode tumor biology.

Faculty Supervisor:

Pierre-Étienne Jacques

Student:

Partner:

Genome Institute of Singapore

Discipline:

Life Sciences

Sector:

Health and Related Sciences & Technology

University:

Université de Sherbrooke

Program: