FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4379282615> ?p ?o ?g. }

• W4379282615 endingPage "3112" @default.
• W4379282615 startingPage "3112" @default.
• W4379282615 abstract "3112 Background: NCI-MATCH aimed to determine the treatment efficacy of identifying actionable genetic alterations, irrespective of cancer histology, and to tailor treatment to the putative molecular drivers of tumors. Leveraging next-generation sequencing (NGS) and ThermoFisher’s Oncomine assay, this phase II trial genotyped 5,540 patient samples during active screening. Reviewing the genotyping statistics, we noted that NCI-MATCH identified fusions in 164 tumors, only 2.96%. This result is substantially lower than expected, given that clinical assays used at MGH’s and Yale’s diagnostic laboratories identified fusions in 8.5% of the 7,500 sequenced cases, 2.5% of which were novel. Notably, the Oncomine assay, based on multiplexed PCR, is unable to detect driver fusion events when either of the gene partners are unknown, or a novel breakpoint is involved. Cross-referencing identified fusions from MGH’s cohort with Oncomine’s primers, 5-30% of these fusions were potentially missed, suggesting that we could detect up to 30% more fusions than originally identified. Developed at MGH’s Molecular Diagnostics Laboratory, Anchored Multiplex PCR (AMP) interrogates 138 known fusion partners, enabling unbiased fusion detection when only one partner is known. With a high likelihood of identifying novel fusion drivers using AMP technology, we sequenced 663 cases that had no identified mutations of interest (MOI) from the NCI-MATCH cohort. Methods: A total of 200ng of RNA per sample was shipped from ECOG-ACRIN’s repository at MD Anderson Cancer Center to MGH (n = 319) and Yale (n = 349). Samples were processed with ArcherDX’s FusionPlex Pan Solid Tumor v2 kit and sequenced on the NextSeq500 with 150 base pair (bp) Paired-End (PE) kits. Data analysis was completed with ArcherDX’s analytics platform in conjunction with custom Python and R code. Reported fusions were manually verified on a case-by-case basis. All statistical tests were conducted in R. Results: Of the cases sequenced, most (663/693, 95.7%) were successfully processed with AMP. We identified 142 cases with at least one gene fusion out of 663 MOI-Negative cases (21%; 95% CI [18%, 25%]), with 90 as unique fusions, significantly more than the 8.5% observed at MGH (P < .001). Of the 142 fusion-positive cases, 36 have potentially actionable driver events, 27 contain novel fusions not previously described, and in 63 cases no drugs are available to target either component of the fusion. Additionally, we identified fusions in (12/34, 35%) Cholangiocarcinoma and (38/101, 37.6%) Sarcoma cases, 9 and 3 of which were potentially actionable respectively. Conclusions: As hypothesized, we identified fusions that the NCI-MATCH screening had missed, detailing sequencing technology improvement that could be broadly applicable to many clinical laboratories sequencing tumors. Clinical trial information: NCT02465060 ." @default.
• W4379282615 created "2023-06-05" @default.
• W4379282615 creator A5012563381 @default.
• W4379282615 creator A5013498908 @default.
• W4379282615 creator A5022166540 @default.
• W4379282615 creator A5040419960 @default.
• W4379282615 creator A5042754421 @default.
• W4379282615 creator A5056275493 @default.
• W4379282615 creator A5087385312 @default.
• W4379282615 creator A5091723132 @default.
• W4379282615 creator A5092083568 @default.
• W4379282615 date "2023-06-01" @default.
• W4379282615 modified "2023-09-25" @default.
• W4379282615 title "Discovery of gene fusions in driver-negative NCI-MATCH screening samples." @default.
• W4379282615 doi "https://doi.org/10.1200/jco.2023.41.16_suppl.3112" @default.
• W4379282615 hasPublicationYear "2023" @default.
• W4379282615 type Work @default.
• W4379282615 citedByCount "0" @default.
• W4379282615 crossrefType "journal-article" @default.
• W4379282615 hasAuthorship W4379282615A5012563381 @default.
• W4379282615 hasAuthorship W4379282615A5013498908 @default.
• W4379282615 hasAuthorship W4379282615A5022166540 @default.
• W4379282615 hasAuthorship W4379282615A5040419960 @default.
• W4379282615 hasAuthorship W4379282615A5042754421 @default.
• W4379282615 hasAuthorship W4379282615A5056275493 @default.
• W4379282615 hasAuthorship W4379282615A5087385312 @default.
• W4379282615 hasAuthorship W4379282615A5091723132 @default.
• W4379282615 hasAuthorship W4379282615A5092083568 @default.
• W4379282615 hasConcept C104317684 @default.
• W4379282615 hasConcept C111829193 @default.
• W4379282615 hasConcept C121608353 @default.
• W4379282615 hasConcept C126322002 @default.
• W4379282615 hasConcept C135763542 @default.
• W4379282615 hasConcept C138626823 @default.
• W4379282615 hasConcept C143998085 @default.
• W4379282615 hasConcept C179786068 @default.
• W4379282615 hasConcept C206936463 @default.
• W4379282615 hasConcept C2781188995 @default.
• W4379282615 hasConcept C31467283 @default.
• W4379282615 hasConcept C54355233 @default.
• W4379282615 hasConcept C70721500 @default.
• W4379282615 hasConcept C71924100 @default.
• W4379282615 hasConcept C72563966 @default.
• W4379282615 hasConcept C86803240 @default.
• W4379282615 hasConceptScore W4379282615C104317684 @default.
• W4379282615 hasConceptScore W4379282615C111829193 @default.
• W4379282615 hasConceptScore W4379282615C121608353 @default.
• W4379282615 hasConceptScore W4379282615C126322002 @default.
• W4379282615 hasConceptScore W4379282615C135763542 @default.
• W4379282615 hasConceptScore W4379282615C138626823 @default.
• W4379282615 hasConceptScore W4379282615C143998085 @default.
• W4379282615 hasConceptScore W4379282615C179786068 @default.
• W4379282615 hasConceptScore W4379282615C206936463 @default.
• W4379282615 hasConceptScore W4379282615C2781188995 @default.
• W4379282615 hasConceptScore W4379282615C31467283 @default.
• W4379282615 hasConceptScore W4379282615C54355233 @default.
• W4379282615 hasConceptScore W4379282615C70721500 @default.
• W4379282615 hasConceptScore W4379282615C71924100 @default.
• W4379282615 hasConceptScore W4379282615C72563966 @default.
• W4379282615 hasConceptScore W4379282615C86803240 @default.
• W4379282615 hasFunder F4320332161 @default.
• W4379282615 hasIssue "16_suppl" @default.
• W4379282615 hasLocation W43792826151 @default.
• W4379282615 hasOpenAccess W4379282615 @default.
• W4379282615 hasPrimaryLocation W43792826151 @default.
• W4379282615 hasRelatedWork W1520266319 @default.
• W4379282615 hasRelatedWork W1966230487 @default.
• W4379282615 hasRelatedWork W2119210416 @default.
• W4379282615 hasRelatedWork W2382060197 @default.
• W4379282615 hasRelatedWork W2382448400 @default.
• W4379282615 hasRelatedWork W2954179695 @default.
• W4379282615 hasRelatedWork W3045590327 @default.
• W4379282615 hasRelatedWork W3199997646 @default.
• W4379282615 hasRelatedWork W4210475754 @default.
• W4379282615 hasRelatedWork W4379282615 @default.
• W4379282615 hasVolume "41" @default.
• W4379282615 isParatext "false" @default.
• W4379282615 isRetracted "false" @default.
• W4379282615 workType "article" @default.