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Erschienen in: memo - Magazine of European Medical Oncology 1/2016

01.02.2016 | original report

TruSight Cancer Sequencing Panel reveals pharmacogenetic variants associated with sensitivity to chemotherapy in lung cancer

verfasst von: N. Chilingirova, Z. Hammoudeh, L. Balabanski, S. Ivanov, R. Vazharova, D. Nikolova, Prof. G. Kurteva, D. Toncheva, P. Chilingirov

Erschienen in: memo - Magazine of European Medical Oncology | Ausgabe 1/2016

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Abstract

Lung cancer is the most common cause of cancer death worldwide, and its prognosis and treatment response rate as well as the survival rate remain poor. In our study, we performed next generation sequencing (NGS) with cancer panel (Illumina) for 19 Bulgarian patients with both non-small cell lung cancer (NSCLC; 18 patients) and neuroendocrine tumor (1 patient) and focused on common polymorphisms which define proven or reported sensitivity to platinum-based therapy. We report reference SNP (rs)1042522 (TP53), rs2228001 (XPC), rs2227983 (EGFR), rs1799793, and rs13181 (ERCC2) single nucleotide polymorphism variants which have been detected in our patients in homozygous and/or heterozygous state. Therefore, we give important information to confirm the role of those polymorphisms in tumor resistance and recurrence after chemotherapy treatment. The results reveal that TruSight Cancer Panel could be a useful clinical tool for determining pharmacogenetic variants associated with the effect of chemotherapy.
Literatur
1.
Zurück zum Zitat Centers for Disease Control and Prevention. Compressed Mortality File 1999–2012, Series 20 No. 2R; 2014. Centers for Disease Control and Prevention. Compressed Mortality File 1999–2012, Series 20 No. 2R; 2014.
2.
Zurück zum Zitat Cancer Incidence in Bulgaria. 2012. Z. Valerianova, N. Dimitrova, S. Tonev, M. Vukov, p. 35. Cancer Incidence in Bulgaria. 2012. Z. Valerianova, N. Dimitrova, S. Tonev, M. Vukov, p. 35.
3.
Zurück zum Zitat Sculier JP, Berghmans T, Meert AP. Advances in target therapy in lung cancer. Eur Respir Rev. 2015;24:23–9.CrossRefPubMed Sculier JP, Berghmans T, Meert AP. Advances in target therapy in lung cancer. Eur Respir Rev. 2015;24:23–9.CrossRefPubMed
5.
Zurück zum Zitat Ai X, Shen S, Shen L, Lu S. An interaction map of small-molecule kinase inhibitors with anaplastic lymphoma kinase (ALK) mutants in ALK-positive non-small cell lung cancer. Biochimie. 2015;112:111–20.CrossRefPubMed Ai X, Shen S, Shen L, Lu S. An interaction map of small-molecule kinase inhibitors with anaplastic lymphoma kinase (ALK) mutants in ALK-positive non-small cell lung cancer. Biochimie. 2015;112:111–20.CrossRefPubMed
6.
Zurück zum Zitat Zimmermann S, Peters S. Present standards and future perspectives in the treatment of metastatic non-small cell lung cancer. Cancer Metastasis Rev. 2015:1–10. Zimmermann S, Peters S. Present standards and future perspectives in the treatment of metastatic non-small cell lung cancer. Cancer Metastasis Rev. 2015:1–10.
7.
Zurück zum Zitat Rousseau B, et al. TP53 transcription factor for the NEDD9/HEF1/Cas-L gene: potential targets in non-small cell lung cancer treatment. Sci Rep. 2015;5. doi:10.1038/srep10356. Rousseau B, et al. TP53 transcription factor for the NEDD9/HEF1/Cas-L gene: potential targets in non-small cell lung cancer treatment. Sci Rep. 2015;5. doi:10.​1038/​srep10356.
8.
9.
Zurück zum Zitat Reck M, Von PJ, Zatloukal P, Ramlau R, Gorbounova V, Hirsh V, et al. Phase III trial of cisplatin plus gemcitabine with either placebo or bevacizumab as first-line therapy for nonsquamous non-smallcell lung cancer: AVAil. J Clin Oncol. 2009;27(8):1227–34.CrossRefPubMed Reck M, Von PJ, Zatloukal P, Ramlau R, Gorbounova V, Hirsh V, et al. Phase III trial of cisplatin plus gemcitabine with either placebo or bevacizumab as first-line therapy for nonsquamous non-smallcell lung cancer: AVAil. J Clin Oncol. 2009;27(8):1227–34.CrossRefPubMed
10.
Zurück zum Zitat Scagliotti G, Hanna N, Fossella F, Sugarman K, Blatter J, Peterson P, et al. The differential efficacy of pemetrexed according to NSCLC histology: a review of two Phase III studies. Oncologist. 2009;14(3):253–63.CrossRefPubMed Scagliotti G, Hanna N, Fossella F, Sugarman K, Blatter J, Peterson P, et al. The differential efficacy of pemetrexed according to NSCLC histology: a review of two Phase III studies. Oncologist. 2009;14(3):253–63.CrossRefPubMed
11.
Zurück zum Zitat Metzker ML. Sequencing technologies—the next generation. Nat Rev Genet. 2010;11(1):31–46.CrossRefPubMed Metzker ML. Sequencing technologies—the next generation. Nat Rev Genet. 2010;11(1):31–46.CrossRefPubMed
12.
Zurück zum Zitat Meyerson M, Gabriel S, Getz G. Advances in understanding cancer genomes through second-generation sequencing. Nat Rev Genet. 2010;11(10):685–96.CrossRefPubMed Meyerson M, Gabriel S, Getz G. Advances in understanding cancer genomes through second-generation sequencing. Nat Rev Genet. 2010;11(10):685–96.CrossRefPubMed
13.
Zurück zum Zitat Kan Z, et al. Diverse somatic mutation patterns and pathway alterations in human cancers. Nature. 2010;466(7308):869–73.CrossRefPubMed Kan Z, et al. Diverse somatic mutation patterns and pathway alterations in human cancers. Nature. 2010;466(7308):869–73.CrossRefPubMed
14.
15.
Zurück zum Zitat Tibaldi C, et al. Correlation of CDA, ERCC1, and XPD polymorphisms with response and survival in gemcitabine/cisplatin-treated advanced non-small cell lung cancer patients. Clin Cancer Res. 2008;14(6):1797–803.CrossRefPubMed Tibaldi C, et al. Correlation of CDA, ERCC1, and XPD polymorphisms with response and survival in gemcitabine/cisplatin-treated advanced non-small cell lung cancer patients. Clin Cancer Res. 2008;14(6):1797–803.CrossRefPubMed
16.
Zurück zum Zitat Hrstka R, Coates PJ, Vojtesek B. Polymorphisms in p53 and the p53 pathway: roles in cancer susceptibility and response to treatment. J Cell Mol Med. 2009;13(3):440–53.CrossRefPubMedPubMedCentral Hrstka R, Coates PJ, Vojtesek B. Polymorphisms in p53 and the p53 pathway: roles in cancer susceptibility and response to treatment. J Cell Mol Med. 2009;13(3):440–53.CrossRefPubMedPubMedCentral
17.
Zurück zum Zitat Dumont P, et al. The codon 72 polymorphic variants of p53 have markedly different apoptotic potential. Nat Genet. 2003;33(3):357–65.CrossRefPubMed Dumont P, et al. The codon 72 polymorphic variants of p53 have markedly different apoptotic potential. Nat Genet. 2003;33(3):357–65.CrossRefPubMed
18.
Zurück zum Zitat Liu L, et al. Combined effect of genetic polymorphisms in P53, P73, and MDM2 on non-small cell lung cancer survival. J Thorac Oncol. 2011;6(11):1793–800.CrossRefPubMed Liu L, et al. Combined effect of genetic polymorphisms in P53, P73, and MDM2 on non-small cell lung cancer survival. J Thorac Oncol. 2011;6(11):1793–800.CrossRefPubMed
19.
Zurück zum Zitat Alberg AJ, Samet JM. Epidemiology of lung cancer. Chest. 2003;123:21–49.CrossRef Alberg AJ, Samet JM. Epidemiology of lung cancer. Chest. 2003;123:21–49.CrossRef
20.
21.
Zurück zum Zitat Johnson N, et al. Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Hum Mol Genet. 2007;16(9):1051–7.CrossRefPubMed Johnson N, et al. Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Hum Mol Genet. 2007;16(9):1051–7.CrossRefPubMed
22.
Zurück zum Zitat Kim J, et al. TP53 codon 72 polymorphism associated with prognosis in patients with advanced gastric cancer treated with paclitaxel and cisplatin. Cancer Chemother Pharmacol. 2009;64(2):355–60.CrossRefPubMed Kim J, et al. TP53 codon 72 polymorphism associated with prognosis in patients with advanced gastric cancer treated with paclitaxel and cisplatin. Cancer Chemother Pharmacol. 2009;64(2):355–60.CrossRefPubMed
23.
Zurück zum Zitat Parmar S, et al. Pharmacogenetic predictors for EGFR-inhibitor-associated skin toxicity. Pharmacogenomics J. 2013;13(2):181–8.CrossRefPubMed Parmar S, et al. Pharmacogenetic predictors for EGFR-inhibitor-associated skin toxicity. Pharmacogenomics J. 2013;13(2):181–8.CrossRefPubMed
24.
Zurück zum Zitat Liu W, et al. Relationship of EGFR mutations, expression, amplification, and polymorphisms to epidermal growth factor receptor inhibitors in the NCI60 cell lines. Clin Cancer Res. 2007;13(22 Pt 1):6788–95.CrossRefPubMed Liu W, et al. Relationship of EGFR mutations, expression, amplification, and polymorphisms to epidermal growth factor receptor inhibitors in the NCI60 cell lines. Clin Cancer Res. 2007;13(22 Pt 1):6788–95.CrossRefPubMed
25.
Zurück zum Zitat Sullivan I, et al. Pharmacogenetics of the DNA repair pathways in advanced non-small cell lung cancer patients treated with platinum-based chemotherapy. Cancer Lett. 2014;353(2):160–6.CrossRefPubMed Sullivan I, et al. Pharmacogenetics of the DNA repair pathways in advanced non-small cell lung cancer patients treated with platinum-based chemotherapy. Cancer Lett. 2014;353(2):160–6.CrossRefPubMed
26.
Zurück zum Zitat Lu J, et al. Correlation of rs1799793 polymorphism in ERCC2 and the clinical response to platinum-based chemotherapy in patients with triple negative breast cancer. Int J Clin Exp Med. 2015;8(2):2934–8.PubMedPubMedCentral Lu J, et al. Correlation of rs1799793 polymorphism in ERCC2 and the clinical response to platinum-based chemotherapy in patients with triple negative breast cancer. Int J Clin Exp Med. 2015;8(2):2934–8.PubMedPubMedCentral
27.
Zurück zum Zitat Boige V, et al. Pharmacogenetic assessment of toxicity and outcome in patients with metastatic colorectal cancer treated with LV5FU2, FOLFOX, and FOLFIRI: FFCD 2000-05. J Clin Oncol. 2010;28(15):2556–64.CrossRefPubMed Boige V, et al. Pharmacogenetic assessment of toxicity and outcome in patients with metastatic colorectal cancer treated with LV5FU2, FOLFOX, and FOLFIRI: FFCD 2000-05. J Clin Oncol. 2010;28(15):2556–64.CrossRefPubMed
28.
Zurück zum Zitat Giovannetti E, et al. Association between DNA-repair polymorphisms and survival in pancreatic cancer patients treated with combination chemotherapy. Pharmacogenomics. 2011;12(12):1641–52.CrossRefPubMed Giovannetti E, et al. Association between DNA-repair polymorphisms and survival in pancreatic cancer patients treated with combination chemotherapy. Pharmacogenomics. 2011;12(12):1641–52.CrossRefPubMed
29.
Zurück zum Zitat Wei S.-z., et al. Predictive value of ERCC1 and XPD polymorphism in patients with advanced non-small cell lung cancer receiving platinum-based chemotherapy: a systematic review and meta-analysis. Med Oncol. 2011;28(1):315–21.CrossRefPubMed Wei S.-z., et al. Predictive value of ERCC1 and XPD polymorphism in patients with advanced non-small cell lung cancer receiving platinum-based chemotherapy: a systematic review and meta-analysis. Med Oncol. 2011;28(1):315–21.CrossRefPubMed
Metadaten
Titel
TruSight Cancer Sequencing Panel reveals pharmacogenetic variants associated with sensitivity to chemotherapy in lung cancer
verfasst von
N. Chilingirova
Z. Hammoudeh
L. Balabanski
S. Ivanov
R. Vazharova
D. Nikolova
Prof. G. Kurteva
D. Toncheva
P. Chilingirov
Publikationsdatum
01.02.2016
Verlag
Springer Vienna
Erschienen in
memo - Magazine of European Medical Oncology / Ausgabe 1/2016
Print ISSN: 1865-5041
Elektronische ISSN: 1865-5076
DOI
https://doi.org/10.1007/s12254-015-0244-2

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