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- W2549595418 abstract "Introduction: Currently epidermal growth factor receptor (EGFR) mutations are regarded as particularly important for improvig nonsquamous non-small cell lung cancer (NSCLC) prognosis but other potential actionable targets have emerged mainly linked to Ras-Raf-Mek-Erk-MAPK and PI3K-Akt-mTOR signelling pathways. Aim: To screen for relevant mutations in NSCLC tissue samples using the Ion Torrent Next Generation Sequencing platform. Methods: Seventy tumor DNA samples from lung adenocarcinoma patients (26 females) addresed for EGFR status assesment were subjected to deep sequencing using the Cancer Hotspot Panel (Life Technologies, Carlsbad, USA). Results: Distinct variants were identified for 33 genes: ABL1, AKT1, ALK, APC, ATM, BRAF, CDKN2A, CSF1R, EGFR, ERBB4, FGFR1, FGFR3, FLT3, HRAS, IDH1, JAK3, KDR, KIT, KRAS, MET, MLH1, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, RB1, RET, SMAD4, SMARCB1, SMO, STK11, and TP53. A total of 1031 distinct mutations(30,6% heteropolymers) were found. Average number of mutations per case was 14.7, while mean number of mutations for individual genes was 31.2. The most frequent occurrences were found in the KDR and RET (100, 9.7% each), PDGFRA (89, 8.6%), TP53 (83, 8.1%), FGFR3 (79, 7.7%), EGFR and FLT3 genes (78, 7.6% each). The most frequently identified mutations were c.1959G>A (FGFR3 gene, 70 occurrences, 6.8%), c.1701A>G (PDGFRA, 69, 6.7%), c.2307G>T (RET, 66, 6.4%), c.1310-3T>C (FLT3, 66, 6.4%), c.*35_*36delinsTC (CSF1R, 65, 6.3%), c.215C>G (TP53, 60, 5.8%) and c.2361G>A (EGFR, 59, 5.7%). Conclusion: Apart from EGFR other driver mutations should probably be actively screened considering both currently approved and future therapeutical options." @default.
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- W2549595418 date "2016-09-01" @default.
- W2549595418 modified "2023-09-26" @default.
- W2549595418 title "Prevalence of mutations in Romanian patients with non-squamous lung carcinoma evaluated through next generation sequencing" @default.
- W2549595418 doi "https://doi.org/10.1183/13993003.congress-2016.pa2848" @default.
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