Genomic characterization of individuals presenting extreme phenotypes of high and low risk to develop tobacco-induced lung cancer

Cancer Medicine

Volumn 7, Issue 7, 2018, Pages 3474-3483

  Fusco, Juan Pablo ^a,b   Pita, Guillermo ^c   Pajares, María José ^b,d,e   Andueza, Maria Pilar ^a,b   Patiño García, Ana ^a,b   de Torres, Juan P ^a,b   Gurpide, Alfonso ^a,b   Zulueta, Javier ^a,b,e   Alonso, Rosario ^c   Alvarez, Nuria ^c   Pio, Ruben ^b,d,e   Melero, Ignacio ^b,d,e   Sanmamed, Miguel F ^a,b   Rodriguez Ruiz, Maria ^a,b   Gil Bazo, Ignacio ^a,b,e   Lopez Picazo, Jose María ^a,b   Casanova, Ciro ^f   Baz Davila, Rebeca ^f   Agudo, Antonio ^g   Lozano, Maria Dolores ^a,b,e   Gonzalez, Alvaro ^a,b   Sala, Nuria ^g   Ardanaz, Eva ^b,h   Benitez, Javier ^c   Montuenga, Luis ^b,d,e   Gonzalez Neira, Anna ^c   Perez Gracia, Jose Luis ^a,b,e   more..

^a UNIVERSITY CLINIC OF NAVARRA   (Spain)

^b IdiSNA Navarra Institute for Health Research   (Spain)

^c Structural Biology and Biocomputing Programme   (Spain)

^d UNIVERSITY OF NAVARRA   (Spain)

^e Autonomous University of Madrid Instituto de Investigación Hospital Universitario La Paz   (Spain)

^f HOSPITAL UNIVERSITARIO NUESTRA SEÑORA DE CANDELARIA   (Spain)

^g BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^h INSTITUTO DE SALUD PÚBLICA DE NAVARRA   (Spain)

Author keywords

ATP10D; cancer risk; extreme phenotypes; genome wide association study; non small cell lung cancer; PDE10A; single nucleotide polymorphism; tobacco

Indexed keywords

MESSENGER RNA;

ADULT; AGED; ARTICLE; ATP10D GENE; CANCER STAGING; CANCER SURVIVAL; CARCINOGENESIS; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; GENOTYPING TECHNIQUE; HIGH RISK POPULATION; HUMAN; LOW RISK POPULATION; MALE; MOLECULAR GENETICS; NON SMALL CELL LUNG CANCER; ONCOGENE; PDE10A GENE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; TOBACCO;

EID: 85050148173     PISSN: None     EISSN: 20457634     Source Type: Journal    
DOI: 10.1002/cam4.1500     Document Type: Article

References (31)

1. Hung, R. J., J. D. McKay, V. Gaborieau, P. Boffetta, M. Hashibe, D. Zaridze, et al. 2008. A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. Nature 452:633–637
2. Amos, C. I., X. Wu, P. Broderick, I. P. Gorlov, J. Gu, T. Eisen, et al. 2008. Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1. Nat. Genet. 40:616–622
3. Thorgeirsson, T. E., F. Geller, P. Sulem, T. Rafnar, A. Wiste, K. P. Magnusson, et al. 2008. A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. Nature 452:638–642
4. Rafnar, T., P. Sulem, S. N. Stacey, F. Geller, J. Gudmundsson, A. Sigurdsson, et al. 2009. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat. Genet. 41:221–227
5. McKay, J. D., R. J. Hung, V. Gaborieau, P. Boffetta, A. Chabrier, G. Byrnes, et al. 2008. Lung cancer susceptibility locus at 5p15.33. Nat. Genet. 40:1404–1406
6. Landi, M. T., N. Chatterjee, K. Yu, L. R. Goldin, A. M. Goldstein, M. Rotunno, et al. 2009. A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am. J. Hum. Genet. 85:679–691
7. Wang, Y., P. Broderick, A. Matakidou, T. Eisen, and R. S. Houlston. 2010. Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers. Carcinogenesis 31:234–238
8. Wang, Y., P. Broderick, E. Webb, X. Wu, J. Vijayakrishnan, A. Matakidou, et al. 2008. Common 5p15.33 and 6p21.33 variants influence lung cancer risk. Nat. Genet. 40:1407–1409
9. Li, Y., C.-C. Sheu, Y. Ye, M. de Andrade, L. Wang, S. C. Chang, et al. 2010. Genetic variants and risk of lung cancer in never smokers: a genome-wide association study. Lancet Oncol. 11:321–330
10. Perez-Gracia, J. L., M. F. Sanmamed, A. Bosch, A. Patiño-Garcia, K. A. Schalper, V. Segura, et al. 2017. Strategies to design clinical studies to identify predictive biomarkers in cancer research. Cancer Treat. Rev. 53:79–97
11. Howie, B. N., P. Donnelly, and J. Marchini. 2009. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet. 5:e1000529
12. 1000 Genomes Project Consortium A, A. Auton, L. D. Brooks, R. M. Durbin, E. P. Garrison, and H. M. Kang, et al. 2015. A global reference for human genetic variation. Nature 526:68–74
13. Győrffy, B., P. Surowiak, J. Budczies, and A. Lánczky. 2013. Online survival analysis software to assess the prognostic value of biomarkers using transcriptomic data in non-small-cell lung cancer. PLoS One 8:e82241. doi: 10.1371/journal.pone.0082241. eCollection 2013
14. Pajares, M. J., J. Agorreta, M. Larrayoz, A. Vesin, T. Ezponda, I. Zudaire, et al. 2012. Expression of tumor-derived vascular endothelial growth factor and its receptors is associated with outcome in early squamous cell carcinoma of the lung. J. Clin. Oncol. 30:1129–1136
15. Shen, Q., F. Cheng, H. Song, W. Lu, J. Zhao, X. An, et al. 2017. Proteome-scale investigation of protein allosteric regulation perturbed by somatic mutations in 7,000 cancer genomes. Am. J. Hum. Genet. 100:5–20
16. Flamant, S., P. Pescher, B. Lemercier, M. Clément-Ziza, F. Képès, M. Fellous, et al. 2003. Characterization of a putative type IV aminophospholipid transporter P-type ATPase. Mamm. Genome 14:21–30
17. Perez-Gracia, J. L., M. G. Ruiz-Ilundain, I. Garcia-Ribas, and E. M. Carrasco. 2002. The role of extreme phenotype selection studies in the identification of clinically relevant genotypes in cancer research. Cancer 95:1605–1610
18. Azevedo, M. F., F. R. Faucz, E. Bimpaki, A. Horvath, I. Levy, R. B. de Alexandre, et al. 2014. Clinical and molecular genetics of the phosphodiesterases (PDEs). Endocr. Rev. 35:195–233
19. Martinez, F. J., P. M. A. Calverley, U.-M. Goehring, M. Brose, L. M. Fabbri, and K. F. Rabe. 2015. Effect of roflumilast on exacerbations in patients with severe chronic obstructive pulmonary disease uncontrolled by combination therapy (REACT): a multicentre randomised controlled trial. Lancet 385:857–866
20. Pullamsetti, S. S., G. A. Banat, A. Schmall, M. Szibor, D. Pomagruk, J. Hänze, et al. 2013. Phosphodiesterase-4 promotes proliferation and angiogenesis of lung cancer by crosstalk with HIF. Oncogene 32:1121–1134
21. Karachaliou, N., J. Codony-Servat, C. Teixidó, S. Pilotto, A. Drozdowskyj, C. Codony-Servat, et al. 2015. BIM and mTOR expression levels predict outcome to erlotinib in EGFR-mutant non-small-cell lung cancer. Sci. Rep. 5:17499
22. Li, N., K. Lee, Y. Xi, B. Zhu, B. D. Gary, V. Ramírez-Alcántara, et al. 2015. Phosphodiesterase 10A: a novel target for selective inhibition of colon tumor cell growth and β-catenin-dependent TCF transcriptional activity. Oncogene 34:1499–1509
23. Lee, K., A. S. Lindsey, N. Li, B. Gary, J. Andrews, A. B. Keeton, et al. 2016. β-catenin nuclear translocation in colorectal cancer cells is suppressed by PDE10A inhibition, cGMP elevation, and activation of PKG. Oncotarget 7:5353–5365
24. de Alexandre, R. B., A. D. Horvath, E. Szarek, A. D. Manning, L. F. Leal, F. Kardauke, et al. 2015. Phosphodiesterase sequence variants may predispose to prostate cancer. Endocr. Relat. Cancer 22:519–530
25. Hicks, A. A., P. P. Pramstaller, Å. Johansson, V. Vitart, I. Rudan, P. Ugocsai, et al. 2009. Genetic determinants of circulating sphingolipid concentrations in European populations. PLoS Genet. 5:e1000672
26. Furuya, H., Y. Shimizu, and T. Kawamori. 2011. Sphingolipids in cancer. Cancer Metastasis Rev. 30:567–576
27. Goldkorn, T., S. Filosto, and S. Chung. 2014. Lung injury and lung cancer caused by cigarette smoke-induced oxidative stress: molecular mechanisms and therapeutic opportunities involving the ceramide-generating machinery and epidermal growth factor receptor. Antioxid. Redox Signal. 21:2149–2174
28. Alberg, A. J., K. Armeson, J. S. Pierce, J. Bielawski, A. Bielawska, K. Visvanathan, et al. 2013. Plasma sphingolipids and lung cancer: a population-based, nested case-control study. Cancer Epidemiol. Biomarkers Prev. 22:1374–1382
29. Pérez-Gracia, J. L., A. Gúrpide, M. G. Ruiz-Ilundain, C. Alfaro Alegría, R. Colomer, J. García-Foncillas, et al. 2010. Selection of extreme phenotypes: the role of clinical observation in translational research. Clin. Transl. Oncol. 12:174–180
30. Perez-Gracia, J. L., and M. G. Ruiz-Ilundain. 2001. Cancer protective mutations: looking for the needle in the haystack. Clin. Transl. Oncol. 3:169–171
31. Pruim, R. J., R. P. Welch, S. Sanna, T. M. Teslovich, P. S. Chines, T. P. Gliedt, et al. 2010. LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 26:2336–2337