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

C Fernandez-Rozadilla, J B Cazier, V Moreno, M Crous-Bou, E Guinó, G Durán, M J Lamas, R López, S Candamio, E Gallardo, L Paré, M Baiget, D Páez, L A López-Fernández, L Cortejoso, M I García, L Bujanda, D González, V Gonzalo, L RodrigoJ M Reñé, R Jover, A Brea-Fernández, M Andreu, X Bessa, X Llor, R Xicola, C Palles, I Tomlinson, S Castellví-Bel, A Castells, C Ruiz-Ponte, A Carracedo, EPICOLON Consortium

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34 Citations (Scopus)


The development of genotyping technologies has allowed for wider screening for inherited causes of variable outcomes following drug administration. We have performed a genome-wide association study (GWAS) on 221 colorectal cancer (CRC) patients that had been treated with 5-fluorouracil (5-FU), either alone or in combination with oxaliplatin (FOLFOX). A validation set of 791 patients was also studied. Seven SNPs (rs16857540, rs2465403, rs10876844, rs10784749, rs17626122, rs7325568 and rs4243761) showed evidence of association (pooled P-values 0.020, 9.426E-03, 0.010, 0.017, 0.042, 2.302E-04, 2.803E-03) with adverse drug reactions (ADRs). This is the first study to explore the genetic basis of inter-individual variation in toxicity responses to the administration of 5-FU or FOLFOX in CRC patients on a genome-wide scale.

Original languageEnglish
Pages (from-to)209-17
Number of pages9
JournalThe Pharmacogenomics Journal
Issue number3
Publication statusPublished - Jun 2013


  • 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


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