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. 2020 May 5;11:2206. doi: 10.1038/s41467-020-16067-1

Fig. 1. Germline alterations and clinical outcomes in the Cleveland Clinic series.

Fig. 1

a Genes with germline pathogenic/likely pathogenic (P/LP) variants in known cancer-predisposing genes (KCPG) and candidate genes and their type of alterations in children, adolescents, and young adult (C-AYA) patients with solid tumors. b Oncoplots of top mutated genes with P/LP variants in KCPG and candidate genes based on the age group. Each column represents one patient and its affected genes. c Two examples of copy number variations (CNVs) found in C-AYA patients with solid tumors. d The number of patients with germline alterations, both single-nucleotide variations (SNVs) and CNVs, in each tumor type. e Clinical outcome comparison between two groups of C-AYA patients with solid tumors, with and without germline alterations. Gray color represents the number of patients with the specified clinical outcome in each group. Two-sided Fisher's exact test was implemented, P = 0.31, OR = 2.14, 95% CI = 0.6–8.0. ACT adrenocortical carcinoma, CNS central nervous system, EWS Ewing sarcoma, GCT germ cell tumor, HGG high-grade glioma, LGG low-grade glioma, LMPRT low malignancy potential renal tumor, NBL neuroblastoma, NM non-malignant tumor, OS osteosarcoma, RCC renal cell carcinoma, RHB rhabdomyosarcoma, STS soft tissue sarcoma, WLM Wilms tumor, Del deletion, Ins insertion.