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Genetic association of gemcitabine/carboplatin-induced leukopenia and neutropenia in non-small cell lung cancer patients using whole-exome sequencing

Lung Cancer Jul 16, 2020

Svedberg A, Björn N, Sigurgeirsson B, et al. - In patients suffering from non-small cell lung cancer, researchers conducted whole-exome sequencing on 215 patients in order to establish genetic markers for gemcitabine/carboplatin-induced leukopenia and neutropenia. They discovered 50 single-nucleotide variants (SNVs) and 12 genes for leukopenia and 111 SNVs and 20 genes for neutropenia via association analysis. For leukopenia and neutropenia, 20 and 19 of these SNVS were partially validated, respectively. Experts identified that the genes SVIL and EFCAB2 were significantly related to leukopenia contain the partially validated SNVs rs3740003, rs10160013, rs1547169, rs10927386 and rs10927387. Significantly different risk scores for high and low toxicity patients were shown by weighted genetic risk score prediction models. Overall, these findings afford a strong base for further studying chemotherapy-induced toxicity.

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