Figure 1. Cancer types, DNA damage response (DDR) gene deficiencies, and mutational patterns.
(a) Cohort sizes for the 32 cancer types comprising the 6065 whole cancer genomes collected from the Hartwig Medical Foundation (HMF; n = 3497) and the PanCancer Analysis of Whole Genomes (PCAWG; n = 2568). (b) Mono- and biallelic loss-of-function (LOF) events were annotated across 736 DDR genes based on both pathogenic variants and copy number losses (loss of heterozygosity; LOH), overall and (c) per patient (d) with varying no. of LOF events per DDR gene (x-axis; logarithmic). (e) Whole-genome mutational patterns were represented as summary statistics and used as input features for the predictive models of DDR gene deficiency. Concretely, each patient was annotated with the number of single-base substitutions (SBSs) that are accounted to each SBS signature (Alexandrov and Stratton, 2014; Degasperi et al., 2020), number of indels divided by context (mh = microhomology; rep = repetitive), and (f) number of structural variants divided by clusterness, size, and type (del = deletion; inv = inversion; tds = tandem duplication; trans = translocation).
Figure 1—figure supplement 1. Loss-of-function events across tumours.
