Journal article

Common variations in ERCC2 are associated with response to cisplatin chemotherapy and clinical outcome in osteosarcoma patients

D Caronia, A Patino-Garcia, RL Milne, M Zalacain-Diez, G Pita, MR Alonso, LT Moreno, L Sierrasesumaga-Ariznabarreta, J Benitez, A Gonzalez-Neira

The Pharmacogenomics Journal | NATURE PUBLISHING GROUP | Published : 2009


Platinum agents cause DNA cross-linking. Nucleotide excision repair genes play a key role in DNA damage repair. This study aims to investigate whether polymorphisms in these genes are associated with tumor response and survival in cisplatin-treated osteosarcoma patients. Eight single nucleotide polymorphisms in ERCC2, XPC, XPA, ERCC1, ERCC4 and ERCC5 genes were analyzed in 91 patients diagnosed with osteosarcoma and treated with cisplatin. A significant association with tumor response, after correction for multiple testing, was found for the Lys751Gln polymorphism in the ERCC2 gene. We found that only 45% of patients with at least one polymorphic G allele responded compared with 80% of patie..

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