Early-onset colorectal cancer in a single health board: do we need to do more?

The incidence of early-onset colorectal cancer (EoCRC) is rising globally and remains a growing healthcare concern. Despite national guidelines recommending universal referral for genetic testing, adherence remains low in many countries. This study evaluates the clinicopathological features, genetic referral patterns and broader implications of EoCRC in a single Scottish health board, contextualised through a recent literature review.

A retrospective review was conducted on all patients diagnosed with EoCRC from January 2019 to March 2023 under NHS Ayrshire and Arran. Demographic, clinical, pathological and genetic data were analysed. In addition, a literature review of studies on EoCRC published since 2015 was performed, identifying 19 relevant publications.

Among 998 colorectal cancer cases, 45 (4.5%) were classified as EoCRC. The median age was 45 years, with an equal male-to-female distribution. Most cases were elective presentations, with rectal tumours being the most common (42%). Advanced-stage disease (T3/T4) was seen in 67%, and 31% had metastatic disease. Although microsatellite instability testing was conducted routinely, only 40% of patients aged under 50 years were referred for genetic counselling. Literature review findings reflected similar trends: late-stage presentation, low referral rates for genetic evaluation and mostly sporadic cases.

Our study highlighted suboptimal genetics referral despite national guidance, advanced-stage diagnosis, equal sex distribution and a predominance of rectal tumours. Multidisciplinary collaboration, greater awareness and structured referral pathways are vital to ensure safe, equitable care. Larger multicentre studies are needed to expand on these findings and inform future service planning and research.