2024 World Conference on Lung Cancer (WCLC) - ePosters-EP.06B.16 Latin-American Non-Small Cell Lung Cancer Patient's Tumors Harbor Many Novels Potentially Actionable/driver Mutations.

EP.06B.16 Latin-American Non-Small Cell Lung Cancer Patient's Tumors Harbor Many Novels Potentially Actionable/driver Mutations.

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The study conducted by Ricardo Armisén at Universidad del Desarrollo, Chile, investigates novel somatic mutations in non-small cell lung cancer (NSCLC) tumors from Latin-American patients. Given that Latin-American individuals are underrepresented in clinical trials and genomic studies, this research aims to shed light on the prevalence and nature of potentially actionable mutations in this population. <br /><br />The study analyzed the DNA of 1890 NSCLC patients from Chile, Brazil, and Peru, focusing on eight actionable cancer genes: ALK, BRAF, EGFR, ERRB2, KRAS, MET, RET, and ROS1. Using a next-generation sequencing panel (Oncomine Focus assay), the research identified 1117 unique somatic mutations. Of these, 46% were previously documented in databases like COSMIC. However, 44% (491) are novel mutations, at the time of database consultation. Notably, 66% of these novel mutations are deemed potentially driver mutations, with 23% being high-confidence novel driver variants predicted by all algorithms used.<br /><br />ALK and ROS1 mutations constituted the majority (23% each) of these potentially actionable variants, followed by ERBB2 (14%), EGFR (11%), RET (11%), BRAF (8%), MET (7%), and KRAS (3%). The study highlights the importance of including diverse populations in genomic studies, as the discovery of these mutations could lead to targeted therapies that improve patient outcomes across various demographics.<br /><br />In conclusion, the research emphasizes the significant presence of both known and novel clinically actionable mutations in Latin-American NSCLC patients, underlining the necessity for inclusive clinical trials and molecular studies to better understand and treat cancers in underrepresented populations.

Asset Subtitle

Ricardo Armisen

Meta Tag

Speaker Ricardo Armisen

Topic Pathology and Biomarkers

Keywords

NSCLC

somatic mutations

Latin-American patients

actionable mutations

next-generation sequencing

ALK

ROS1

genomic studies

driver mutations

inclusive clinical trials