Evidence map›Paper›PMID 31754995›Full record

ArticleMolecular diagnosis & therapy2020

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.

Pavalan Selvam, Meng-Chang Hsiao, Gregory Omerza, Daniel Bergeron, Shannon Rowe, Jasmina Uvalic, Melissa Soucy, Michael Peracchio, Shelbi Burns, Bridgette Meyers and 7 more

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Article in Molecular diagnosis & therapy, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Pavalan Selvam, 10 Discovery Drive, Farmington, CT, 06032, USA.
Meng-Chang Hsiao, 10 Discovery Drive, Farmington, CT, 06032, USA.
Gregory Omerza, 10 Discovery Drive, Farmington, CT, 06032, USA.
Daniel Bergeron, 10 Discovery Drive, Farmington, CT, 06032, USA.
Shannon Rowe, 10 Discovery Drive, Farmington, CT, 06032, USA.
Jasmina Uvalic, 10 Discovery Drive, Farmington, CT, 06032, USA.
Melissa Soucy, 10 Discovery Drive, Farmington, CT, 06032, USA.
Michael Peracchio, 10 Discovery Drive, Farmington, CT, 06032, USA.
Shelbi Burns, 10 Discovery Drive, Farmington, CT, 06032, USA.
Bridgette Meyers, 10 Discovery Drive, Farmington, CT, 06032, USA.
Matthew Prego, 10 Discovery Drive, Farmington, CT, 06032, USA.
Qian Nie, 10 Discovery Drive, Farmington, CT, 06032, USA.
Guruprasad Ananda, 10 Discovery Drive, Farmington, CT, 06032, USA.
Harshpreet Chandok, 10 Discovery Drive, Farmington, CT, 06032, USA.
Kevin Kelly, 10 Discovery Drive, Farmington, CT, 06032, USA.
Andrew Hesse, 10 Discovery Drive, Farmington, CT, 06032, USA.
Honey V Reddi, 10 Discovery Drive, Farmington, CT, 06032, USA. honey.reddi@jax.org.ORCID 0000-0003-1280-9993

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveThe 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.

methodsWe 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.

resultsThirty-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.

conclusionsThis 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.

Indexed as

Biomarkers, TumorHigh-Throughput Nucleotide SequencingMutationPrecision MedicineGene Expression ProfilingHumansNeoplasmsPrognosisTranscriptomeBiomarkers, Tumor

Identifiers

PMID31754995

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