Fig. 3

Cancer Biomarkers Database. a A board of clinical and research experts gather the genomic biomarkers of drug response to be included in the Cancer Biomarkers database through periodic updates. The upper panel displays the simplified schema of the data model. The clinical/research community is encouraged to provide feedback to edit an existing entry or add a novel one by using the comment feature available in the web service. Any suggestion is subsequently evaluated by the scientific team and incorporated as appropriate. A semi-automatic pipeline annotates any novel entry to ensure the consistency of the attributes, including variant re-mapping from protein to genomic coordinates when necessary. The lower panel displays some of the 1574 biomarkers that have been collected in the current version of the database, and the pie charts summarize the content. CNA copy number alteration. b CGI analyses detect putative driver mutations in individual tumors that are rarely observed in the corresponding cancer type. When these variants are known targets of anti-cancer therapies, they may constitute tumor type re-purposing opportunities. The graph summarizes some of these potential opportunities detected by the CGI on 6792 pan-cancer tumors with exome-sequencing data, which are currently unexplored. The barplots display the overall number of tumor samples (separated by cancer type) in which they were observed. The acronym of the cancer type in which the genomic event is demonstrated to confer sensitivity to the drug is shown in parentheses following the name of the drug, and the clinical evidence of that association is represented through color circles (note that the clinical guidelines/recommendations label refers to FDA-approved or international guidelines). Targeted drugs and chemotherapies are shown separately. Cancer acronyms that are not included in the Fig. 2 legend: RA renal angiomyolipoma, BCC basal cell carcinoma, GCA giant cell astrocytoma, G glioma, MCL mantle cell lymphoma, MRT malignant rhabdoid tumor, R renal, CH chollangiocarcinoma. c Therapeutic landscape of 6792 tumors with exome-sequencing data. Fraction of tumors with genomic alterations that are biomarkers of drug response in each cancer type. Colors in the bars denote the clinical evidence supporting the effect of biomarkers in that disease (see evidence colors in b). Note that the event with evidence closest to the clinical evidence is given priority when several biomarkers of drug response co-occur in the same tumor sample. The lower part of the graph indicates the total number of samples per cancer type, detailing the number of samples in which mutation, CNA, and/or fusion data were analyzed. Cancer acronyms as in the Fig. 2 caption. d Same as c for a cohort of 17,462 tumors sequenced by targeted panels and gathered by the GENIE project. Tumors were grouped according to the most specific disease subtype available in the patient information. Cancer acronyms that are not included in the Fig. 2 legend are detailed in Additional file 2: Supplementary content