Pharmacogenomics in colorectal cancer: A genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration

Pharmacogenomics Journal

Volumn 13, Issue 3, 2013, Pages 209-217

  Fernandez Rozadilla, C ^a   Cazier, J B ^b   Moreno, V ^c,d   Crous Bou, M ^c   Guino E ^c   Duran G ^e   Lamas, M J ^e   Lopez R ^e   Candamio, S ^e   Gallardo, E ^e   Pare L ^f   Baiget, M ^f   Paez D ^f   Lopez Fernandez L A ^g   Cortejoso, L ^g   Garcia M I ^g   Bujanda, L ^h   Gonzalez D ^f   Gonzalo, V ^d   Rodrigo, L ⁱ   Rene J M ^j   Jover, R ^k   Brea Fernandez A ^a   Andreu, M ^l   Bessa, X ^l   Llor, X ^m   Xicola, R ^m   Palles, C ^b   Tomlinson, I ^b,n   Castellvi Bel S ^d   Castells, A ^d   Ruiz Ponte, C ^a   Carracedo, A ^a   more..

^a UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^d UNIVERSITY OF BARCELONA   (Spain)

^e HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^f UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^g HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^h UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

ⁱ HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^j HOSPITAL UNIVERSITARI ARNAU DE VILANOVA   (Spain)

^k HOSPITAL GENERAL UNIVERSITARIO DE ALICANTE   (Spain)

^l HOSPITAL DEL MAR   (Spain)

^m UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

ⁿ UNIVERSITY OF OXFORD   (United Kingdom)

more..

Author keywords

5 fluorouracil; ADR; colorectal cancer; FOLFOX; GWAS

Indexed keywords

FLUOROURACIL; OXALIPLATIN;

ADULT; ADVERSE OUTCOME; AGED; ARTICLE; CANCER COMBINATION CHEMOTHERAPY; CHEMOTHERAPY INDUCED NAUSEA AND VOMITING; COLORECTAL CANCER; CONTROLLED STUDY; COPY NUMBER VARIATION; DIARRHEA; DRUG RESPONSE; DRUG SAFETY; FEMALE; GENETIC ASSOCIATION; HEMATOLOGIC DISEASE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUCOSA INFLAMMATION; MULTICENTER STUDY; NEUROPATHY; OUTCOME ASSESSMENT; PHARMACOGENOMICS; PHASE 1 CLINICAL TRIAL; PHASE 2 CLINICAL TRIAL; PREDICTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AGED, 80 AND OVER; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; BIOMARKERS, PHARMACOLOGICAL; CLINICAL TRIALS, PHASE II AS TOPIC; COLORECTAL NEOPLASMS; DRUG-RELATED SIDE EFFECTS AND ADVERSE REACTIONS; FEMALE; FLUOROURACIL; GENOME-WIDE ASSOCIATION STUDY; GENOTYPING TECHNIQUES; HUMANS; LEUCOVORIN; MALE; MIDDLE AGED; ORGANOPLATINUM COMPOUNDS; PHARMACOGENETICS; POLYMORPHISM, SINGLE NUCLEOTIDE; TREATMENT OUTCOME;

EID: 84878247061     PISSN: 1470269X     EISSN: 14731150     Source Type: Journal    
DOI: 10.1038/tpj.2012.2     Document Type: Article

References (36)

1. Beutler E, Dern RJ, Flanagan CL, Alving AS. The hemolytic effect of primaquine. VII. Biochemical studies of drug-sensitive erythrocytes. J Lab Clin Med 1955; 45: 286-295.
2. Wilke RA, Lin DW, Roden DM, Watkins PB, Flockhart D, Zineh I et al. Identifying genetic risk factors for serious adverse drug reactions: current progress and challenges. Nat Rev Drug Discov 2007; 6: 904-916.
3. Ferlay J, Shin HR, Bray F, Forman D, Mathers C, Parkin DM. Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int J Cancer 2010; 127: 2893-2917.
4. Quasar Collaborative G, Gray R, Barnwell J, McConkey C, Hills RK, Williams NS et al. Adjuvant chemotherapy versus observation in patients with colorectal cancer: a randomised study. Lancet 2007; 370: 2020-2029.
5. Meyerhardt JA, Mayer RJ. Systemic therapy for colorectal cancer. N Engl J Med 2005; 352: 476-487.
6. de Gramont A, Figer A, Seymour M, Homerin M, Hmissi A, Cassidy J et al. Leucovorin and fluorouracil with or without oxaliplatin as first-line treatment in advanced colorectal cancer. J Clin Oncol 2000; 18: 2938.
7. Eng C. Toxic effects and their management: daily clinical challenges in the treatment of colorectal cancer. Nat Rev Clin Oncol 2009; 6: 207-218.
8. Van Kuilenburg ABP, Meinsma R, Zoetekouw L, Van Gennip AH. High prevalence of the IVS14 1G4 A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity. Pharmacogenet Genom 2002; 12: 555.
9. Ichikawa W, Takahashi T, Suto K, Sasaki Y, Hirayama R. Orotate phosphoribosyltransferase gene polymorphism predicts toxicity in patients treated with bolus 5-fluorouracil regimen. Clin Cancer Res 2006; 12: 3928.
10. Iyer L, King CD, Whitington PF, Wen M, Ramirez J, Karrison T et al. Genetic predisposition to the metabolism of irinotecan (CPT-11). Role of uridine diphosphate glucuronosyltransferase isoform 1A1 in the glucuronidation of its active metabolite (SN-38) in human liver microsomes. J Clin Invest 1998; 101: 847.
11. Meyer UA. Pharmacogenetics and adverse drug reactions. Lancet 2000; 356: 1667-1671.
12. Yin M, Yan J, Martinez-Balibrea E, Graziano F, Lenz HJ, Kim HJ et al. ERCC1 and ERCC2 polymorphisms predict clinical outcomes of oxaliplatin-based chemotherapies in gastric and colorectal cancer: a systemic review and meta-analysis. Clin Cancer Res 2011; 17: 1632-1640.
13. Azfal S, Gusella M, Vainer B, Vogel UB, Andersen JT, Broedbaek K et al. Combinations of polymorphisms in genes involved in the 5-Fluorouracil metabolism pathway are associated with gastrointestinal toxicity in chemotherapy-treated colorectal cancer patients. Clin Cancer Res 2011; 17: 3822-3829.
14. Crowley JJ, Sullivan PF, McLeod HL. Pharmacogenomic genome-wide association studies: lessons learned thus far. Pharmacogenomics 2009; 10: 161-163.
15. Pinol V, Castells A, Andreu M, Castellvi-Bel S, Alenda C, Llor X et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005; 293: 1986-1994.
16. Paré L, Marcuello E, Altés A, del Rio E, Sedano L, Salazar J et al. Pharmacogenetic prediction of clinical outcome in advanced colorectal cancer patients receiving oxaliplatin/5-fluorouracil as first-line chemotherapy. Br J Cancer 2008; 99: 1050-1055.
17. Chua W, Goldstein D, Lee CK, Dhillon H, Michael M, Mitchell P et al. Molecular markers of response and toxicity to FOLFOX chemotherapy in metastatic colorectal cancer. Br J Cancer 2009; 101: 998-1004.
18. Martinez-Balibrea E, Abad A, Martinez-Cardus A, Ginés A, Valladares M, Navarro M et al. UGT1A and TYMS genetic variants predict toxicity and response of colorectal cancer patients treated with first line irinotecan and fluorouracil combination therapy. Br J Cancer 2010; 103: 581-589.
19. Korn JM, Kuruvilla FG, McCarroll SA, Wysoker A, Nemesh J, Caqley S et al. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 2008; 40: 1253-1260.
20. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575.
21. Patterson N, Price AL, Reich D. Population structure and eigenanalysis. PLoS Genet 2006; 2: e190.
22. Price AL, Weale ME, Patterson N, Myers SR, Need AC, Shianna KV et al. Long-range LD can confound genome scans in admixed populations. Am J Hum Genet 2008; 83: 132-135.
23. Ihaka R, Gentleman R. R: A language for data analysis and graphics. J Comput Graph Stat 1996; 5: 299-314.
24. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263-265.
25. Colella S, Yau C, Taylor JM, Mirza G, Butler H, Clouston P et al. QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res 2007; 35: 2013-2025.
26. Wellcome Trust Case Control Consortium. Genome-wide association study of CNVs in 16, 000 cases of eight common diseases and 3, 000 shared controls. Nature 2010; 464: 713-720.
27. Zhang H, Li YM, Jin X. DPYD* 5 gene mutation contributes to the reduced DPYD enzyme activity and chemotherapeutic toxicity of 5-FU: results from genotyping study on 75 gastric carcinoma and colon carcinoma patients. Med Oncol 2007; 24: 251.
28. Sohn KJ, Corxford R, Yates Z, Lucock M, Kim YI. Effect of the methylenetetrahydrofolate reductase C677T polymorphism on chemo-sensitivity of colon and breast cancer cells to 5-fluorouracil and methotrexate. J Natl Cancer Inst 2004; 96: 134.
29. Lecomte T, Landi B, Beaune P, Laurent-Puig P, Loriot MA. Glutathione S-transferase P1 polymorphism (Ile105Val) predicts cumulative neuropathy in patients receiving oxaliplatin-based chemotherapy. Clin Cancer Res 2006; 12: 3050.
30. Daly AK. Genome-wide association studies in pharmacogenomics. Nat Rev Genet 2010; 11: 241-246.
31. Weinshilboum R, Wang L. Pharmacogenomics: bench to bedside. Nat Rev Drug Discov 2004; 3: 739-748.
32. Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y et al. Origins and functional impact of copy number variation in the human genome. Nature 2009; 464: 704-712.
33. Skol AD, Scott LJ, Abecasis GR, Boehnke M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 2006; 38: 209-213.
34. Zhu Y, Richardson JA, Parada LF, Graff JM. Smad3 mutant mice develop metastatic colorectal cancer. Cell 1998; 94: 703-714.
35. Ashcroft GS, Yang X, Glick AB, Weinstein M, Letterio JJ, Mizel DE et al. Mice lacking Smad3 show accelerated wound healing and an impaired local inflammatory response. Nat Cell Biol 1999; 1: 260-266.
36. Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 2010; 11: 415-425.