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. 2019 Sep 12;8(18):e012875. doi: 10.1161/JAHA.119.012875

Figure 4.

Figure 4

Genes with mutations in the studied CAS individuals. Genes are distributed considering the gene ontology among telomere instability and damage response or VEGF (vascular endothelial growth factor)‐angiogenesis signaling pathways. Exomes from normal/tumor tissues of 3 patients (F1, F2, and F3) carrying the constitutional POT1 p.Arg117Cys mutation (orange) and 3 sporadic CAS individuals not carrying mutations in the POT1 gene (NT1, NT2, and NT3) were sequenced. Constitutional mutations refer to variants found in blood samples and found in common in both N and T tissues (red). Mutations found only in tumor tissue were considered somatic (purple). Only tumor tissue from another 4 sporadic CAS individuals (T1 to T4) was also sequenced. A distinction between first event and somatic variants could not be made for the mutations found in these individuals (blue). Less stringent frequency filtering corresponds to a minor allele frequency <0.05 (light purple) instead of <0.01 (light blue). AS indicates angiosarcoma; CAS, cardiac angiosarcoma; N, normal tissue; P. thyroid, papillary thyroid tumor; T, tumor tissue.