2023 World Conference on Lung Cancer (Posters)-P1.01. Frequency of Germline Mutations in Patients with Non-small Cell Lung Cancer (NSCLC) Harboring Actionable DRIVER Alterations (G-DRIVER)

P1.01. Frequency of Germline Mutations in Patients with Non-small Cell Lung Cancer (NSCLC) Harboring Actionable DRIVER Alterations (G-DRIVER) - PDF(Slides)

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A study was conducted to determine the frequency of germline pathogenic or likely-pathogenic variants (GPVs) in genes associated with cancer predisposition in patients with non-small cell lung cancer (NSCLC) harboring actionable driver alterations. The study included a prospective cohort of 133 patients with NSCLC, and a custom NGS panel was used to analyze the germline variants. It was found that 26 patients (19.5%) harbored GPVs in 19 different genes, with the majority of these genes involved in DNA repair.<br /><br />The demographic and clinical characteristics of the patients with GPVs were compared to those without GPVs. There were no significant differences in age, gender, smoking history, personal history of cancer, family history of cancer, or stage of cancer between the two groups.<br /><br />The most common actionable drivers identified in the cohort were EGFR mutations, ALK fusions, ROS1 fusions, BRAF V600E mutations, RET fusions, MET exon 14 skipping mutations, and ERBB2 mutations. However, there were no significant differences in the distribution of these actionable drivers between the patients with GPVs and those without GPVs.<br /><br />Patients with GPVs who were candidates for genetic counseling were referred to the Genetic Counseling Unit, and the best preventive strategy was defined for each patient.<br /><br />Overall, the study found that germline testing in NSCLC patients with actionable driver alterations identified GPVs in 19.5% of the patients, which is slightly higher than what has been reported in the general NSCLC population. The findings highlight the importance of considering germline mutations in patients with actionable driver alterations and suggest that genetic counseling and preventive strategies may be beneficial for these patients.

Asset Subtitle

Ernest Nadal

Meta Tag

Speaker Ernest Nadal

Topic Risk Factors, Risk Reduction & Tobacco Control

Keywords

germline pathogenic variants

genes associated with cancer predisposition

non-small cell lung cancer

actionable driver alterations

prospective cohort

DNA repair

EGFR mutations

ALK fusions

genetic counseling

germline testing