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. 2020 Mar 19;6(5):724–734. doi: 10.1001/jamaoncol.2020.0197

Figure 2. Frequency of Rare Pathogenic or Likely Pathogenic Germline Variants in Cancer-Susceptibility Genes.

Figure 2.

A, Includes 1004 patients in the discovery set, 1062 individuals in the control group, and 27 173 individuals in the ExAC group. Genes with both AD and AR inheritance patterns and variants in genes with unknown inheritance are grouped with AD genes. B, Includes genes with a significantly higher frequency of pathogenic/likely pathogenic, damaging, or rare variants in 732 European patients compared with 27 173 individuals in the ExAC group. P values represent European patient-control group burden tests, with P < .0002 significant at the Bonferroni threshold. AD indicates autosomal-dominant genes; AR, autosomal-recessive genes; ExAC, Exome Aggregation Consortium database; P/LP, pathogenic/likely pathogenic; and XLR, X-linked or Y-linked recessive inheritance pattern genes.