Figure 1.

Germline pathogenic or likely pathogenic variants in cancer predisposition genes across 786 neuroblastoma patients. Oncoprint of known cancer predisposition genes harboring rare germline variants classified as pathogenic or likely pathogenic. Patients without pathogenic or likely pathogenic variants in these genes are not shown. Patients are ordered by Children’s Oncology Group risk group and annotated with clinical and tumor biologic features. Genes are color-coded according to mode of inheritance, when known. Bar chart to the right indicates the number of variants detected for each gene and whether pathogenicity was determined based on ClinVar or our modified InterVar automated assessment. All variants were manually reviewed for quality and evidence of pathogenicity. INSS = International Neuroblastoma Staging System; UTR = Untranslated Region.