Abstract PR004: Mutational signature profiling identifies a distinct subgroup of early-onset colorectal cancer associated with younger age at diagnosis, recent birth year and specific genomic features

Peter Georgeson; Alysha Prisc; Jihoon E Joo; Khalid Mahmood; Romy Walker; Mark Clendenning; Julia Como; Natalie Diepenhorst; Julie McDonald; Steven Gallinger; Robert Grant; Dylan E O'Sullivan; Darren R Brenner; Finlay A Macrae; Christophe Rosty; Ingrid M Winship; Mark A Jenkins; Daniel D Buchanan

Journal article

Abstract PR004: Mutational signature profiling identifies a distinct subgroup of early-onset colorectal cancer associated with younger age at diagnosis, recent birth year and specific genomic features

Peter Georgeson, Alysha Prisc, Jihoon E Joo, Khalid Mahmood, Romy Walker, Mark Clendenning, Julia Como, Natalie Diepenhorst, Julie McDonald, Steven Gallinger, Robert Grant, Dylan E O'Sullivan, Darren R Brenner, Finlay A Macrae, Christophe Rosty, Ingrid M Winship, Mark A Jenkins, Daniel D Buchanan

Clinical Cancer Research | American Association for Cancer Research (AACR) | Published : 2025

DOI: 10.1158/1557-3265.earlyonsetca25-pr004

Abstract

Abstract Introduction: The cause/s of the increasing incidence of early-onset colorectal cancer (EOCRC) are unknown. Tumor mutational signatures provide a powerful genomic tool for discovering mutational processes associated with known or unknown etiologies. The aim was to identify subgroups of EOCRCs based on their tumor mutational signature profiles, then validate and genomically characterize these novel subgroups of EOCRC. Methods: Whole exome sequencing (WES) was performed on tumor and matched blood-derived DNA from 275 non-hereditary, mismatch repair p..

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