The global incidence and mortality of early-age onset colorectal cancer (EOCRC, or CRC diagnosed under 50 years) has increased in recent decades.
High-risk surveillance and personalised oncological treatment may improve patients’ outcomes. This study aims to characterise real-world somatic and germline molecular profiles in European EOCRC patients.
Conclusions
Results support universal and paired somatic and germline multi-gene panels for all EOCRC patients, regardless of MMR status or family history. Systematic molecular testing approaches are necessary to address disparities in people with EOCRC. Larger unselected cohort studies would support validation of testing prediction models and estimates of clinically relevant variant actionability.
(Somatic testing analyses acquired genetic changes (mutations) in a person’s tumor cells to guide cancer treatment, while germline testing looks for inherited genetic mutations present in every cell of the body since birth)
Lynch Syndrome Ireland 