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. Author manuscript; available in PMC: 2021 Nov 1.
Published in final edited form as: Gut. 2021 Jan 7;70(11):2138–2149. doi: 10.1136/gutjnl-2019-320462

Figure 3.

Figure 3.

Heatmap showing the mean ± SD of each tumour mutational signature (TMS) in the hereditary and non-hereditary CRC groups included in the study. X-axis: COSMIC v3 TMS reported to be associated with defective base excision repair (BER; SBS18, SBS36, SBS30), with defective mismatch repair (MMR; SBS6, SBS14, SBS15, SBS20, SBS21, SBS26, SBS44, ID2, and ID7) and with ageing or “clock-like” signatures (SBS1 and ID1). Y-axis: hereditary CRC groups (biallelic MUTYH and monoallelic MUTYH pathogenic variant carriers and MLH1, MSH2 and MSH6 gene pathogenic variant carriers (Lynch)) and the non-hereditary and TCGA CRCs stratified by MMRd and MMRp controls. Red boxes highlight TMS signatures found in this study to be significantly associated with CRCs from biallelic MUTYH pathogenic variant carriers or with CRCs from Lynch syndrome carriers when compared with all CRC controls (n=185) or with MMRp control CRCs (n=160), respectively.