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

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© 2023 The Authors; Published by the American Association for Cancer Research

This open access article is distributed under the Creative Commons Attribution 4.0 International (CC BY 4.0) license.

PMC Copyright notice

Molecular analysis for 3 highlighted patients. A, Path (red), LP (gold), and VUS (Blue) variants identified by TSO500 in colon adenocarcinoma from 15-year-old male. Pathogenic germline mutations were identified in MLH1 (c.156del p.Glu53Argfs*4) and APC (c.3329C>A, p.Ser1110*) and VUS in SMAD4 (c.947A>G, p.Asn316Ser; hatched bars). B, Variants identified by TSO500 in a malignant melanotic schwannoma from a 36-year-old female, with Path mutations in NF1 (c.276dupA, p.C93fs*14) and PRKAR1A (c.207_208delGA, p.K70fs*11) and LP variant in SETD2 (c.4405dupA, p.M1469fs*6).C, Variants identified in two lymph node metastases collected 1 year apart from a carcinoma of unknown primary in a 75-year-old male (purple collected first, green collected second). VUS with higher percentage VAF (>45%) were identified in both samples (NCOR1, MST1R, ABL2, ROS1, ESR1, FAT1, POLE, NTRK3, and GEN1), as well as low VAF (∼6%) VUS in ZNF703. Pathogenicity of variants is indicated in y-axis label.