Fig. 1: Overview of the analysis steps and groups of CRC tumor sequencing data included in the study, totaling 5649 CRCs. | Nature Communications

Fig. 1: Overview of the analysis steps and groups of CRC tumor sequencing data included in the study, totaling 5649 CRCs.

From: Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures

Fig. 1

The SBS18/SBS36 TMS threshold was established using 102 CRCs down-sampled from whole-exome sequenced (WES) to intersect with the 1.34 Mb capture used to sequence the CRC tumors in the validation set. The 2528 CRCs sequenced with 1.34 Mb capture as part of the validation set were used to refine the SBS18/SBS36 classifier by including the somatic mutation count and TMS reconstruction error. The accuracy of the refined classifier was assessed using 3019 CRC tumors sequenced with a 1.96 Mb capture as part of the test set. The refined classifier was subsequently applied to 79 CRCs from monoallelic MUTYH pathogenic variant carriers, and CRCs defined as potential MUTYH biallelics and MUTYH uncertain status to determine its utility in variant classification. CI confidence interval, CIDR Center for Inherited Disease Research, CRC colorectal cancer, GECCO Genetic Epidemiology of Colorectal cancer Consortium, Mb megabase, OICR Ontario Institute of Cancer Research, PV pathogenic variant, SBS single bases substitution, TMS tumor mutational signature, VUS variant of uncertain clinical significance.

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