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. 2020 May 29;11:2662. doi: 10.1038/s41467-020-16142-7

Fig. 2. HRDetect analysis.

Fig. 2

a HRDetect scores were established with whole-genome sequencing in baseline biopsies of 26 patients with untreated primary triple negative breast cancer (locally assessed) entering the RIO window clinical trial. HRDetect positive cancers (HRDetect score >0.7) were enriched for inactivating mutations and promoter methylation of HR genes compared to HRDetect negative cancers (p = 0.0005, Fisher’s exact test). Star, an additional patient with ER-positive breast cancer and BRCA2 germline mutation is shown. 2 stars, locally assessed as TNBC but centrally assessed as PR-positive breast cancer with BRCA1 methylation. Magenta bars, BRCA1/2 germline mutation; Blue bars, BRCA1 methylation; Yellow bars, PALB2 germline mutation; Turquoise bars, RAD51C methylation; Grey bar, None/unknown. b Examples of genome plots for a sample with low (top) and high (bottom) HRDetect scores. The histograms associated with each circos plot show mutation counts for each mutation class: the topmost histogram shows the number of mutations contributing to each substitution signature; the middle histogram represents indel patterns; and the bottom histogram shows the number of rearrangements contributing to each rearrangement signature.