Figure 1.

Breakdown of tumours, their male/female ratio and mean age at diagnosis (±SD) included in this study from the ACCFR, OCCFR, ANGELS, WEHI and TCGA studies. In total, 737 CRCs were analysed, consisting of 54 hereditary CRCs and 683 non-hereditary CRCs. A discovery group of 142 CRCs were selected from clinic-based studies, while the validation group of 97 CRCs was selected from population-based studies. An additional 498 tumours sourced from colorectal adenocarcinoma (COAD) and rectal adenocarcinoma (READ) studies of TCGA were included as an additional comparison group. Non-hereditary CRCs were stratified into mismatch repair-proficient (MMRp controls) and mismatch repair-deficient (MMRd controls) tumours.