Association of Four ERCC1 and ERCC2 SNPs with Survival of Bone Tumour Patients

Aim: SNPs of ERCC1 and ERCC2 genes have been found to be associated with response to platinum therapyin different clinical settings. In the current study, we investigated the relationship of SNPs in ERCC1 and ERCC2to cisplain response and survival in osteosarcoma patients.
Methods: 267 consecutive patients diagnosed withosteosarcoma between January 2003 to January 2005 were followed up until the end of January 2010. ERCC1Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERCC2 Lys751Gln polymorphisms were detectedbased upon the Sequenom MassARRAY platform.
Results: For ERCC1 Asn118Asn, the variant genotype T/Twas strongly significantly associated with a higher event free survival when compared with the wild-type C/C,with an adjusted OR (95% CI) of 0.39 (0.14-0.95). ERCC2 751 A/A genotype showed increased event free survivalof osteosarcoma (HR=0.44; 95%CI=0.10-0.87). However, we did not find significant association of ERCC1Gln504Lys and ERCC2 Asp312Asn polymorphisms with prognosis of osteosarcoma.
Conclusion: We first reportassociations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERCC2 Lys751Gln,with risk of death from osteosarcoma in a Chinese population, indicating ERCC1 118T/T and ERCC2 A/A maybe used as surrogate markers for clinical outcome of osteosarcoma treatmetn with cisplain.