Germline haploinsufficiency of MUTYH causes mutational signature SBS18 in multiple tumour types and specifically raises colorectal cancer risk.

Half of the 44 individuals in group 2 exhibited SBS18 in their CRC, representing a highly significant increase over group 3 (2.7-fold odds ratio, P = 4.48 × 10 −4 ; Table 1 , Fig. 4 , Supplementary Tables 1 and 2 ).

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In CRC-excluded cases, mono-allelic MBD4 status was associated in univariable analysis with SBS1 burden and activity, whereas associations in the smaller CRC data set did not reach statistical significance.

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