Integrating Cell‐Based and Clinical Genome‐Wide Studies to Identify Genetic Variants Contributing to Treatment Failure in Neuroblastoma Patients
作者： Navin Pinto , Eric R Gamazon , Nirav Antao , Jamie Myers , Amy L Stark
DOI: 10.1038/CLPT.2014.37
关键词:
摘要: High-risk neuroblastoma is an aggressive malignancy, with high rates of treatment failure. We evaluated genetic variants associated in vitro sensitivity to two derivatives cyclophosphamide for association clinical response a separate replication cohort patients (n = 2,709). To determine sensitivity, lymphoblastoid cell lines (LCLs) were exposed increasing concentrations 4-hydroperoxycyclophosphamide (4HC; n 422) and phosphoramide mustard (PM; 428). Genome-wide studies performed identify single-nucleotide polymorphisms (SNPs) 4HC PM. SNPs consistently LCL analyzed associations event-free survival (EFS) patients. Two linked SNPs, rs9908694 rs1453560, found be (i) PM LCLs across populations (ii) EFS all (P 0.01) within the high-risk subset 0.05). Our study highlights value cell-based models candidate that may predict cancer. Clinical Pharmacology & Therapeutics (2014); 95 6, 644–652. doi:10.1038/clpt.2014.37
sci-hub.se 参考文章(42)
Corine Ekhart, Valerie D. Doodeman, Sjoerd Rodenhuis, Paul H.M. Smits, Jos H. Beijnen, Alwin D.R. Huitema, Influence of polymorphisms of drug metabolizing enzymes (CYP2B6, CYP2C9, CYP2C19, CYP3A4, CYP3A5, GSTA1, GSTP1, ALDH1A1 and ALDH3A1) on the pharmacokinetics of cyclophosphamide and 4-hydroxycyclophosphamide. Pharmacogenetics and Genomics. ,vol. 18, pp. 515- 523 ,(2008) , 10.1097/FPC.0B013E3282FC9766
Kai Wang, Sharon J. Diskin, Haitao Zhang, Edward F. Attiyeh, Cynthia Winter, Cuiping Hou, Robert W. Schnepp, Maura Diamond, Kristopher Bosse, Patrick A. Mayes, Joseph Glessner, Cecilia Kim, Edward Frackelton, Maria Garris, Qun Wang, Wendy Glaberson, Rosetta Chiavacci, Le Nguyen, Jayanti Jagannathan, Norihisa Saeki, Hiroki Sasaki, Struan F. A. Grant, Achille Iolascon, Yael P. Mosse, Kristina A. Cole, Hongzhe Li, Marcella Devoto, Patrick W. McGrady, Wendy B. London, Mario Capasso, Nazneen Rahman, Hakon Hakonarson, John M. Maris, Integrative genomics identifies LMO1 as a neuroblastoma oncogene Nature. ,vol. 469, pp. 216- 220 ,(2011) , 10.1038/NATURE09609
Nick Bown, Maria ?astowska, Simon Cotterill, Seamus O'Neill, Caroline Ellershaw, Paul Roberts, Ian Lewis, , 17q gain in neuroblastoma predicts adverse clinical outcome Medical and Pediatric Oncology. ,vol. 36, pp. 14- 19 ,(2001) , 10.1002/1096-911X(20010101)36:1<14::AID-MPO1005>3.0.CO;2-G
Christopher J Lessard, Indra Adrianto, John A Ice, Graham B Wiley, Jennifer A Kelly, Stuart B Glenn, Adam J Adler, He Li, Astrid Rasmussen, Adrienne H Williams, Julie Ziegler, Mary E Comeau, Miranda Marion, Benjamin E Wakeland, Chaoying Liang, Paula S Ramos, Kiely M Grundahl, Caroline J Gallant, Graciela S Alarcón, Juan-Manuel Anaya, Sang-Cheol Bae, Susan A Boackle, Elizabeth E Brown, Deh-Ming Chang, Soo-Kyung Cho, Lindsey A Criswell, Jeffrey C Edberg, Barry I Freedman, Gary S Gilkeson, Chaim O Jacob, Judith A James, Diane L Kamen, Robert P Kimberly, Jae-Hoon Kim, Javier Martin, Joan T Merrill, Timothy B Niewold, So-Yeon Park, Michelle A Petri, Bernardo A Pons-Estel, Rosalind Ramsey-Goldman, John D Reveille, R Hal Scofield, Yeong Wook Song, Anne M Stevens, Betty P Tsao, Luis M Vila, Timothy J Vyse, Chack-Yung Yu, Joel M Guthridge, Kenneth M Kaufman, John B Harley, Edward K Wakeland, Carl D Langefeld, Patrick M Gaffney, Courtney G Montgomery, Kathy L Moser, None, Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as Susceptibility Loci for Systemic Lupus Erythematosus in a Large-Scale Multiracial Replication Study American Journal of Human Genetics. ,vol. 90, pp. 648- 660 ,(2012) , 10.1016/J.AJHG.2012.02.023
R. Stephanie Huang, Shiwei Duan, Sunita J. Shukla, Emily O. Kistner, Tyson A. Clark, Tina X. Chen, Anthony C. Schweitzer, John E. Blume, M. Eileen Dolan, Identification of genetic variants contributing to cisplatin-induced cytotoxicity by use of a genomewide approach. American Journal of Human Genetics. ,vol. 81, pp. 427- 437 ,(2007) , 10.1086/519850
Mario Rossi, A Emre Sayan, Alessandro Terrinoni, Gerry Melino, Richard A Knight, Mechanism of Induction of Apoptosis by p73 and Its Relevance to Neuroblastoma Biology Annals of the New York Academy of Sciences. ,vol. 1028, pp. 143- 149 ,(2004) , 10.1196/ANNALS.1322.015
Stephen M. Schleicher, Luigi Moretti, Vinod Varki, Bo Lu, Progress in the unraveling of the endoplasmic reticulum stress/autophagy pathway and cancer: Implications for future therapeutic approaches Drug Resistance Updates. ,vol. 13, pp. 79- 86 ,(2010) , 10.1016/J.DRUP.2010.04.002
Gerald Zon, Susan Marie Ludeman, Joan A. Brandt, Victoria L. Boyd, Gunay Ozkan, William Egan, Kai Liu Shao, NMR spectroscopic studies of intermediary metabolites of cyclophosphamide. A comprehensive kinetic analysis of the interconversion of cis- and trans-4-hydroxycyclophosphamide with aldophosphamide and the concomitant partitioning of aldophosphamide between irreversible fragmentation and reversible conjugation pathways Journal of Medicinal Chemistry. ,vol. 27, pp. 466- 485 ,(1984) , 10.1021/JM00370A008
S. Hakomori, Glycosylation defining cancer malignancy: New wine in an old bottle Proceedings of the National Academy of Sciences of the United States of America. ,vol. 99, pp. 10231- 10233 ,(2002) , 10.1073/PNAS.172380699
Maria Garris, Carmel McConville, Wendy B London, Robert C Seeger, Struan F A Grant, Hongzhe Li, Nazneen Rahman, Eric Rappaport, Hakon Hakonarson, John M Maris, Mario Capasso, Marcella Devoto, Cuiping Hou, Shahab Asgharzadeh, Joseph T Glessner, Edward F Attiyeh, Yael P Mosse, Cecilia Kim, Sharon J Diskin, Kristina A Cole, Kristopher Bosse, Maura Diamond, Marci Laudenslager, Cynthia Winter, Jonathan P Bradfield, Richard H Scott, Jayanti Jagannathan, Common variations in BARD1 influence susceptibility to high-risk neuroblastoma Nature Genetics. ,vol. 41, pp. 718- 723 ,(2009) , 10.1038/NG.374