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. 2023 Dec 6;3(12):2468–2482. doi: 10.1158/2767-9764.CRC-23-0247

FIGURE 2.

FIGURE 2

Variant genes found in 3 or more patients for ACC, N = 27 (A), GIST, N = 22 (B), and NEN, N = 24 (C). Variant genes found in 2 or more patients for MTC, N = 8 (D) and chordoma, N = 5 (E). TSO500 gene panel sequencing identified pathogenic or likely pathogenic mutations for most tumors (F), with NEN and chordoma showing the lowest percentage of pathogenic mutations identified. ACC and MTC tumor analysis identified the highest percentage of pathogenic mutations. G, sdGIST and MTC had the most actionable mutations in Tier 1A. Germline sequencing on participants was performed using directed variant, single gene, or small gene panels (<100 genes; hatched bars) or using comprehensive large gene panels or WES (solid bars; H). The proportion of Path/LP mutations identified (red) varied by tumor type. I, The most common Path/LP germline mutations found were SDHA/B/C, in participants with sdGIST and their family members, and RET, in an ACC, three MTCs, and a pheochromocytoma.