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. 2023 Sep 9;116(1):149–159. doi: 10.1093/jnci/djad183

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Figure 2. — Neuroblastoma patients harbor an excess burden of rare pathogenic or likely pathogenic (P-LP) variants in cancer predisposition genes. A) Overall excess burden of P-LP variants (single nucleotide variations and indels) in neuroblastoma (NBL) vs Penn Medicine BioBank (PMBB) and the Genome Aggregation Database (gnomAD) v2.1 controls is shown for cancer predisposition genes and the subset of genes studied involved in DNA repair. B) Gene-based rare variant burden test results comparing the number of neuroblastoma subjects with P-LP variants to those detected in gnomAD v2.1 and PMBB. C) Lollipop figure depicting 8 germline P-LP variants in BARD1. D) Rare P-LP variants in BARD1 are observed predominantly in patients diagnosed with high-risk neuroblastoma. CI = confidence interval; COG = Children’s Oncology Group; CPG = cancer predisposition gene.