2022 World Conference on Lung Cancer (ePosters)-EP16.02-013. Retrospective Analysis of BRCA1/2 Alterations in Advanced NSCLC Using An Amplicon-based NGS Liquid Biopsy Assay

EP16.02-013. Retrospective Analysis of BRCA1/2 Alterations in Advanced NSCLC Using An Amplicon-based NGS Liquid Biopsy Assay

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Researchers from Lucence Diagnostics and Lucence Health have conducted a retrospective analysis of BRCA1/2 alterations in advanced non-small cell lung cancer (NSCLC) using an amplicon-based next-generation sequencing (NGS) liquid biopsy assay. The study aimed to understand the clinical and molecular profiles of BRCA mutant and BRCA wildtype NSCLC and investigate the correlation between BRCA alterations and response to immune checkpoint inhibitors (ICI).<br /><br />The study utilized the LiquidHALLMARK assay, which is based on ultrasensitive amplicon-based AmpliMark technology, to analyze genomic alterations, including BRCA mutations and deletions. The assay had a detection limit of 0.1% variant allele frequency for single nucleotide variants (SNVs) and indels, and a 1.5X fold change for copy number alterations.<br /><br />The results showed that pathogenic BRCA alterations were detected in 6.7% of metastatic NSCLC cases. The analysis also revealed differential clinical and molecular profiles between BRCA mutant and BRCA wildtype NSCLC. BRCA alterations were found to be more prevalent in males and associated with higher plasma cfDNA concentrations. Additionally, BRCA mutant NSCLC had more somatic alterations compared to BRCA wildtype NSCLC.<br /><br />The study highlights the potential utility of screening for pathogenic BRCA alterations in NSCLC, as these alterations may have implications for treatment response to ICI. Further investigation is warranted to explore the correlation between BRCA alterations and ICI treatment response in NSCLC.<br /><br />The study was supported by Lucence Diagnostics, and the authors are employees of Lucence Diagnostics and Lucence Health. The corresponding author for the study is Jonathan Poh.

Asset Subtitle

Jonathan Poh

Meta Tag

Speaker Jonathan Poh

Topic Tumour Biology and Biomarkers - Minimally Invasive Biomarkers

Keywords

BRCA1/2 alterations

non-small cell lung cancer

amplicon-based next-generation sequencing

liquid biopsy assay

clinical and molecular profiles

immune checkpoint inhibitors

LiquidHALLMARK assay

AmpliMark technology

genomic alterations

copy number alterations