Fig. 3

Absence of BRCA-driven HRD in MM. a Pie charts showing the relative signature composition according to DeconstructSig in three MM cases, without a prior knowledge of which signatures are involved or detected by NNMF. Testing all 30 COSMIC mutational signatures, Signature 3 is extracted is all samples. b Circos plot of three MMs (ND = newly diagnosed; RR = relapsed/refractory; SMM = smoldering MM) where deconstructSig extracted a significant Signature 3 contribution. From the external ring to the internal: mutations, (vertically plotted according to their inter-mutational distance and where the color of each dot represents the mutation class), indels (dark green = insertion; and brown = deletion); copy number variants (red = deletions, green = gain), rearrangements (blue = inversion, red = deletions, green = ITD, black = translocations). PD26419a is the only patient with a slightly high HRDetect score when analyzed including Signature 3. c Circos plots of a breast cancer sample without BRCA deficiency (PD4069a), one with BRCA1 deficiency (PD6413a) and one with BRCA2 deficiency (PD4954a). The MM genomic landscape shows significant differences to the two BRCA-deficient breast cancers, in particular in terms of numbers of indels and SVs, suggesting BRCA-driven HRD is not present in the MM samples analyzed