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Fig. 1 | BMC Cancer

Fig. 1

From: Portrait of a cancer: mutational signature analyses for cancer diagnostics

Fig. 1

Mutational processes linked to treatment selection via mutational signatures. Mutational signatures in tumor genomes can reflect the activity of specific mutational processes and thereby provide support for therapy selection. Different types of mutational signatures (a) can be considered: base substitution signatures (orange), indel signatures (green), rearrangement signatures (yellow), geographically localized mutational phenomena (blue) or other signatures characterized by copy-number variations (grey). Diagnostic interpretation of characteristic signatures can contribute to therapy choice (e) and include (green) or exclude (red) patients from a treatment. Actionable pathways that can be identified by mutational signatures (a) mainly include DNA repair defects (b), which was confirmed by the presence of pathogenic mutations in the indicated genes in these pathways (c). The prevalence of germline pathogenic mutations in these genes is typically linked to a cancer predisposition syndrome (d). Abbreviations: CS-[number], COSMIC signature; RS-[number], rearrangement signature; MH-indels, indels at microhomologies; STR-indels, short tandem repeat-mediated indels; TSB sigs, signatures showing transcriptional strand bias. APOBEC, apolipoprotein B DNA-editing complex; MAP, MUTYH-associated polyposis; NAP, NTHL1-associated polyposis; PARP, poly(ADP-ribose) polymerase; PPAP, polymerase proofreading associated polyposis. * defects in base excision repair have been associated with these characteristic substitutions

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