Mutation Yield of a Custom 212-Gene Next-Generation Sequencing Panel for Solid Tumors: Clinical Experience of the First 260 Cases Tested Using the JAX ActionSeq™ Assay
In: Molecular diagnosistherapy, Jg. 24 (2019-11-23), Heft 1
Online
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Zugriff:
The study aimed to retrospectively evaluate the positive yield rate of a custom 212-gene next-generation sequencing (NGS) panel, the JAX ActionSeq™ assay, used in molecular profiling of solid tumors for precision medicine. We evaluated 261 cases tested over a 24-month period including cancers across 24 primary tissue types and report on the mutation yield in these cases. Thirty-three of the 261 cases (13%) had no detectable clinically significant variants. In the remaining 228 cases (87%), we identified 550 clinically significant variants in 88 of the 212 genes, with four of fewer clinically significant variants being detected in 62 of 88 genes (70%). TP53 had the highest number of variants (125), followed by APC (47), KRAS (47), ARID1A (20), PIK3CA (20) and EGFR (18). There were 38 tier I and 512 tier II variants, with two genes having only a tier I variant, seven genes having both a tier I and tier II variant, and 79 genes having at least one tier II variant. Overall, the ActionSeq™ assay detected clinically significant variants in 42% of the genes included in the panel (88/212), 68% of which (60/88) were detected in more than one tumor type. This study demonstrates that of the genes with documented involvement in cancer, only a limited number are currently clinically significant from a therapeutic, diagnostic and/or prognostic perspective.
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Mutation Yield of a Custom 212-Gene Next-Generation Sequencing Panel for Solid Tumors: Clinical Experience of the First 260 Cases Tested Using the JAX ActionSeq™ Assay
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Autor/in / Beteiligte Person: | Hesse, Andrew ; Nie, Qian ; Prego, Matthew ; Selvam, Pavalan ; Omerza, Gregory ; Chandok, Harshpreet ; Bergeron, Daniel ; Reddi, Honey V. ; Uvalic, Jasmina ; Hsiao, Meng-Chang ; Kelly, Kevin ; Peracchio, Michael ; Soucy, Melissa ; Rowe, Shannon ; Burns, Shelbi ; Ananda, Guruprasad ; Meyers, Bridgette |
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Zeitschrift: | Molecular diagnosistherapy, Jg. 24 (2019-11-23), Heft 1 |
Veröffentlichung: | 2019 |
Medientyp: | unknown |
ISSN: | 1179-2000 (print) |
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