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Journal of Cancer Epidemiology
Volume 2017, Article ID 6170290, 9 pages
https://doi.org/10.1155/2017/6170290
Research Article

Prevalence of EGFR Mutations in Lung Cancer in Uruguayan Population

1Laboratorio de Glicobiología e Inmunología Tumoral, Institut Pasteur de Montevideo, Montevideo, Uruguay
2Servicio de Oncología Clínica, Hospital de Clínicas, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay
3Departamento de Genética, Laboratorio Epidemiología Genética, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay
4Departamento de Inmunobiología, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay

Correspondence should be addressed to Nora Berois; yu.ude.ruetsap@siorebn

Received 12 January 2017; Revised 22 May 2017; Accepted 29 May 2017; Published 28 June 2017

Academic Editor: Yun-Ling Zheng

Copyright © 2017 Nora Berois et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. J. R. Molina, P. Yang, S. D. Cassivi, S. E. Schild, and A. A. Adjei, “Non-small cell lung cancer: epidemiology, risk factors, treatment, and survivorship,” Mayo Clinic Proceedings, vol. 83, no. 5, pp. 584–594, 2008. View at Publisher · View at Google Scholar · View at Scopus
  2. T. J. Lynch, D. W. Bell, R. Sordella et al., “Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib,” The New England Journal of Medicine, vol. 350, no. 21, pp. 2129–2139, 2004. View at Publisher · View at Google Scholar · View at Scopus
  3. J. G. Paez, P. A. Jänne, J. C. Lee et al., “EGFR mutations in lung, cancer: correlation with clinical response to gefitinib therapy,” Science, vol. 304, no. 5676, pp. 1497–1500, 2004. View at Publisher · View at Google Scholar · View at Scopus
  4. D. S. W. Tan, S. S. Yom, M. S. Tsao et al., “The international association for the study of lung cancer consensus statement on optimizing management of EGFR mutation-positive non-small cell lung cancer: status in 2016,” Journal of Thoracic Oncology, vol. 11, no. 7, pp. 946–963, 2016. View at Publisher · View at Google Scholar · View at Scopus
  5. D. S. W. Tan, T. S. K. Mok, and T. R. Rebbeck, “Cancer genomics: diversity and disparity across ethnicity and geography,” Journal of Clinical Oncology, vol. 34, no. 1, pp. 91–101, 2016. View at Publisher · View at Google Scholar · View at Scopus
  6. G. Ellison, G. Zhu, A. Moulis, S. Dearden, G. Speake, and R. McCormack, “EGFR mutation testing in lung cancer: a review of available methods and their use for analysis of tumour tissue and cytology samples,” Journal of Clinical Pathology, vol. 66, no. 2, pp. 79–89, 2013. View at Publisher · View at Google Scholar · View at Scopus
  7. L. Landi and F. Cappuzzo, “Pharmacotherapy targeting the EGFR oncogene in NSCLC,” Expert Opinion on Pharmacotherapy, vol. 15, no. 16, pp. 2293–2305, 2014. View at Publisher · View at Google Scholar · View at Scopus
  8. F.-C. Kuan, L.-T. Kuo, M.-C. Chen et al., “Overall survival benefits of first-line EGFR tyrosine kinase inhibitors in EGFR-mutated non-small-cell lung cancers: a systematic review and meta-analysis,” British Journal of Cancer, vol. 113, no. 10, pp. 1519–1528, 2015. View at Publisher · View at Google Scholar · View at Scopus
  9. Z. Lohinai, M. A. Hoda, K. Fabian et al., “Distinct epidemiology and clinical consequence of classic versus rare EGFR mutations in lung adenocarcinoma,” Journal of Thoracic Oncology, vol. 10, no. 5, pp. 738–746, 2015. View at Publisher · View at Google Scholar · View at Scopus
  10. K. Konduri, J. Gallant, Y. K. Chae et al., “EGFR fusions as novel therapeutic targets in lung cancer,” Cancer Discovery, vol. 6, no. 6, pp. 601–611, 2016. View at Publisher · View at Google Scholar
  11. M. Piñeros, M. S. Sierra, and D. Forman, “Descriptive epidemiology of lung cancer and current status of tobacco control measures in Central and South America,” Cancer Epidemiology, vol. 44, Supplement 1, pp. S90–S99, 2016. View at Publisher · View at Google Scholar · View at Scopus
  12. M. Sans, “Admixture studies in Latin America: from the 20th to the 21st century,” Human Biology, vol. 72, no. 1, pp. 155–177, 2000. View at Google Scholar
  13. M. Rodríguez, C. Camejo, B. Bertoni et al., “(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families,” Neuromuscular Disorders, vol. 15, no. 2, pp. 185–190, 2005. View at Publisher · View at Google Scholar · View at Scopus
  14. H. Cardoso, B. Crispino, A. Mimbacas, and M. E. Cardoso, “A low prevalence of cystic fibrosis in Uruguayans of mainly European descent,” Genetics and Molecular Research, vol. 3, no. 2, pp. 258–263, 2004. View at Google Scholar · View at Scopus
  15. O. Arrieta, A. F. Cardona, G. Federico Bramuglia et al., “Genotyping non-small cell lung cancer (NSCLC) in latin America,” Journal of Thoracic Oncology, vol. 6, no. 11, pp. 1955–1959, 2011. View at Publisher · View at Google Scholar · View at Scopus
  16. F. Corpet, “Multiple sequence alignment with hierarchical clustering,” Nucleic Acids Research, vol. 16, no. 22, pp. 10881–10890, 1988. View at Publisher · View at Google Scholar · View at Scopus
  17. R Core Team, R: A Language and Environment for Statistical Computing, R Foundation for Statistical Computing, Vienna, Austria, 2013, http://www.r-project.org/.
  18. C. E. Steuer, M. Behera, L. Berry et al., “Role of race in oncogenic driver prevalence and outcomes in lung adenocarcinoma: results from the Lung Cancer Mutation Consortium,” Cancer, vol. 122, no. 5, pp. 766–772, 2016. View at Publisher · View at Google Scholar · View at Scopus
  19. S. P. D’Angelo, Y. Y. Janjigian, N. Ahye et al., “Distinct clinical course of EGFR-mutant resected lung cancers: results of testing of 1118 surgical specimens and effects of adjuvant gefitinib and erlotinib,” Journal of Thoracic Oncology, vol. 7, no. 12, pp. 1815–1822, 2012. View at Publisher · View at Google Scholar · View at Scopus
  20. R. A. de Mello, F. S. Pires, D. S. Marques et al., “EGFR exon mutation distribution and outcome in non-small-cell lung cancer: a Portuguese retrospective study,” Tumor Biology, vol. 33, no. 6, pp. 2061–2068, 2012. View at Publisher · View at Google Scholar
  21. M. Locatelli-Sanchez, S. Couraud, D. Arpin, R. Riou, P. P. Bringuier, and P. J. Souquet, “Routine EGFR molecular analysis in non-small-cell lung cancer patients is feasible: exons 18–21 sequencing results of 753 patients and subsequent clinical outcomes,” Lung, vol. 191, no. 5, pp. 491–499, 2013. View at Publisher · View at Google Scholar · View at Scopus
  22. B. Weber, H. Hager, B. S. Sorensen et al., “EGFR mutation frequency and effectiveness of erlotinib: a prospective observational study in danish patients with non-small cell lung cancer,” Lung Cancer, vol. 83, no. 2, pp. 224–230, 2014. View at Publisher · View at Google Scholar · View at Scopus
  23. R. Rosell, T. Moran, C. Queralt et al., “Screening for epidermal growth factor receptor mutations in lung cancer,” The New England Journal of Medicine, vol. 361, no. 10, pp. 958–967, 2009. View at Publisher · View at Google Scholar · View at Scopus
  24. S. Gahr, R. Stoehr, E. Geissinger et al., “EGFR mutational status in a large series of Caucasian European NSCLC patients: data from daily practice,” British Journal of Cancer, vol. 109, no. 7, pp. 1821–1828, 2013. View at Publisher · View at Google Scholar · View at Scopus
  25. A. Marchetti, C. Martella, L. Felicioni et al., “EGFR mutations in non-small-cell lung cancer: analysis of a large series of cases and development of a rapid and sensitive method for diagnostic screening with potential implications on pharmacologic treatment,” Journal of Clinical Oncology, vol. 23, no. 4, pp. 857–865, 2005. View at Publisher · View at Google Scholar · View at Scopus
  26. A. Chougule, K. Prabhash, V. Noronha et al., “Frequency of EGFR mutations in 907 lung adenocarcioma patients of Indian ethnicity,” PLoS ONE, vol. 8, no. 10, Article ID e76164, 2013. View at Publisher · View at Google Scholar · View at Scopus
  27. P.-L. Sun, H. Seol, H. J. Lee et al., “High incidence of EGFR mutations in Korean men smokers with no intratumoral heterogeneity of lung adenocarcinomas: correlation with histologic subtypes, EGFR/TTF-1 expressions, and clinical features,” Journal of Thoracic Oncology, vol. 7, no. 2, pp. 323–330, 2012. View at Publisher · View at Google Scholar · View at Scopus
  28. E. Stone, H. A. Allen, T. Saghaie et al., “High proportion of rare and compound epidermal growth factor receptor mutations in an Australian population of non-squamous non-small-cell lung cancer,” Internal Medicine Journal, vol. 44, no. 12, pp. 1188–1192, 2014. View at Publisher · View at Google Scholar · View at Scopus
  29. H. Errihani, H. Inrhaoun, A. Boukir et al., “Frequency and type of epidermal growth factor receptor mutations in moroccan patients with lung adenocarcinoma,” Journal of Thoracic Oncology, vol. 8, no. 9, pp. 1212–1214, 2013. View at Publisher · View at Google Scholar · View at Scopus
  30. H. N. Honma, M. W. Perroud, M. S. T. Leme et al., “EGFR activating mutations and their association with response to platinum-doublet chemotherapy in Brazilian non-small cell lung cancer patients,” Targeted Oncology, vol. 9, no. 4, pp. 389–394, 2014. View at Publisher · View at Google Scholar · View at Scopus
  31. O. Arrieta, A. F. Cardona, C. Martín et al., “Updated frequency of EGFR and KRAS mutations in nonsmall-cell lung cancer in Latin America: the Latin-American consortium for the investigation of lung cancer (CLICaP),” Journal of Thoracic Oncology, vol. 10, no. 5, pp. 838–843, 2015. View at Publisher · View at Google Scholar · View at Scopus
  32. R. S. Leidner, P. Fu, B. Clifford et al., “Genetic abnormalities of the EGFR pathway in African American patients with non-small-cell lung cancer,” Journal of Clinical Oncology, vol. 27, no. 33, pp. 5620–5626, 2009. View at Publisher · View at Google Scholar · View at Scopus
  33. M. L. Cote, R. Haddad, D. J. Edwards et al., “Frequency and type of epidermal growth factor receptor mutations in African Americans with non-small cell lung cancer,” Journal of Thoracic Oncology, vol. 6, no. 3, pp. 627–630, 2011. View at Publisher · View at Google Scholar · View at Scopus
  34. J. M. Reinersman, M. L. Johnson, G. J. Riely et al., “Frequency of EGFR and KRAS mutations in lung adenocarcinomas in African Americans,” Journal of Thoracic Oncology, vol. 6, no. 1, pp. 28–31, 2011. View at Publisher · View at Google Scholar · View at Scopus
  35. B. T. Clifford, P. Fu, N. A. Pennell, B. Halmos, and R. S. Leidner, “EGFR molecular testing in African-American non-small cell lung cancer patients—a review of discrepant data,” Translational Lung Cancer Research, vol. 2, no. 3, pp. 251–255, 2013. View at Publisher · View at Google Scholar · View at Scopus
  36. N. Leduc, C. Ahomadegbe, M. Agossou et al., “Incidence of lung adenocarcinoma biomarker in a Caribbean and African caribbean population,” Journal of Thoracic Oncology, vol. 11, no. 5, pp. 769–773, 2016. View at Publisher · View at Google Scholar · View at Scopus
  37. A. C. De Melo, V. Karen De Sá, C. Sternberg et al., “Mutational profile and new IASLC/ATS/ERS classification provide additional prognostic information about lung adenocarcinoma: a study of 125 patients from Brazil,” Oncology, vol. 89, no. 3, pp. 175–186, 2015. View at Publisher · View at Google Scholar · View at Scopus
  38. J. G. Carneiro, P. G. Couto, L. Bastos-Rodrigues et al., “Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients,” Genetics Research, vol. 96, article e002, 2014. View at Publisher · View at Google Scholar · View at Scopus
  39. M. Raghavan, M. Steinrücken, K. Harris et al., “Population genetics. Genomic evidence for the Pleistocene and recent population history of Native Americans,” Science, vol. 349, no. 6250, Article ID aab3884, 2015. View at Publisher · View at Google Scholar
  40. D. Reich, N. Patterson, D. Campbell et al., “Reconstructing Native American population history,” Nature, vol. 484, pp. 370–374, 2012. View at Google Scholar
  41. A. Ruiz-Linares, K. Adhikari, V. Acuña-Alonzo et al., “Admixture in Latin America: geographic structure, phenotypic diversity and self-perception of ancestry based on 7,342 individuals,” PLoS Genetics, vol. 10, no. 9, Article ID e1004572, 2014. View at Publisher · View at Google Scholar
  42. F. M. Salzano and M. Sans, “Interethnic admixture and the evolution of Latin American populations,” Genetics and Molecular Biology, vol. 37, no. 1, pp. 151–170, 2014. View at Publisher · View at Google Scholar · View at Scopus
  43. PC. Hidalgo, M. Bengochea, D. Abilleira et al., “Genetic admixture estimate in the Uruguayan Population based on the Loci LDLR, GYPA, HBGG, GC and D7S8,” International Journal of Human Genetics, vol. 5, pp. 217–222, 2005. View at Google Scholar
  44. Y. Liu, Z. Ren, J. Wang, and S. Zhang, “Epidermal growth factor receptor-tyrosine kinase inhibitor therapy is especially beneficial to patients with exon 19 deletion compared with exon 21 L858R mutation in non-small-cell lung cancer: systematic review and meta analysis,” Thoracic Cancer, vol. 7, no. 4, pp. 406–414, 2016. View at Publisher · View at Google Scholar · View at Scopus
  45. Y. Kobayashi, Y. Togashi, Y. Yatabe et al., “EGFR exon 18 mutations in lung cancer: molecular predictors of augmented sensitivity to afatinib or neratinib as compared with first- or third-generation TKIs,” Clinical Cancer Research, vol. 21, no. 23, pp. 5305–5313, 2015. View at Publisher · View at Google Scholar · View at Scopus
  46. C.-H. Chiu, C.-T. Yang, J.-Y. Shih et al., “Epidermal growth factor receptor tyrosine kinase inhibitor treatment response in advanced lung adenocarcinomas with G719X/L861Q/S768I mutations,” Journal of Thoracic Oncology, vol. 10, no. 5, pp. 793–799, 2015. View at Publisher · View at Google Scholar · View at Scopus
  47. E. Banno, Y. Togashi, Y. Nakamura et al., “Sensitivities to various epidermal growth factor receptor-tyrosine kinase inhibitors of uncommon epidermal growth factor receptor mutations L861Q and S768I: what is the optimal epidermal growth factor receptor-tyrosine kinase inhibitor?” Cancer Science, vol. 107, no. 8, pp. 1134–1140, 2016. View at Publisher · View at Google Scholar · View at Scopus
  48. N. Prim, M. Legrain, E. Guerin et al., “Germ-line exon 21 EGFR mutations, V843I and P848L, in nonsmall cell lung cancer patients,” European Respiratory Review, vol. 23, no. 133, pp. 390–392, 2014. View at Publisher · View at Google Scholar · View at Scopus
  49. G. S. M. A. Kerner, E. Schuuring, J. Sietsma et al., “Common and rare EGFR and KRAS mutations in a dutch non-small-cell lung cancer population and their clinical outcome,” PLoS ONE, vol. 8, no. 7, Article ID e70346, 2013. View at Publisher · View at Google Scholar · View at Scopus
  50. Genomes Project Consortium, A. Auton, L. D. Brooks et al., “A global reference for human genetic variation,” Nature, vol. 526, pp. 68–74, 2015. View at Google Scholar
  51. W. Zhang, L. P. Stabile, P. Keohavong et al., “Mutation and polymorphism in the EGFR-TK domain associated with lung cancer,” Journal of Thoracic Oncology, vol. 1, no. 7, pp. 635–647, 2006. View at Publisher · View at Google Scholar · View at Scopus
  52. H. Sasaki, K. Endo, M. Takada et al., “EGFR polymorphism of the kinase domain in Japanese lung cancer,” Journal of Surgical Research, vol. 148, no. 2, pp. 260–263, 2008. View at Publisher · View at Google Scholar · View at Scopus
  53. Y. W. Koh, H. J. Kim, H. Y. Kwon et al., “Q787Q EGFR polymorphism as a prognostic factor for lung squamous cell carcinoma,” Oncology, vol. 90, no. 5, pp. 289–298, 2016. View at Publisher · View at Google Scholar · View at Scopus
  54. K. Schmid, N. Oehl, F. Wrba, R. Pirker, C. Pirker, and M. Filipits, “EGFR/KRAS/BRAF mutations in primary lung adenocarcinomas and corresponding locoregional lymph node metastases,” Clinical Cancer Research, vol. 15, no. 14, pp. 4554–4560, 2009. View at Publisher · View at Google Scholar · View at Scopus