We studied the predictive value for response and toxicity of functional polymorphisms in genes involved in the oxaliplatin/fluorouracil pathway in colorectal cancer patients. One hundred and twenty-seven (127) patients were treated with curative intended surgery followed by adjuvant chemotherapy with FOLFOX (fluorouracil, leucovorin and oxaliplatin) regimen. The median age was 65.53 (27–80) years (66.9% male, 59.1% rectum). The median follow-up was 8.5 years (IQR, 4.1–9.4). At the end of follow-up, 59 patients (46.5%) had relapsed or died in the whole study population. We did find that XRCC1GG genotype is associated with a higher risk of developing haematologic toxicity. Furthermore, we report a significant association of the TS 3′UTR 6 bp/6 bp polymorphism and the XRCC1 rs25487 with a higher risk of developing anaemia and diarrhoea, respectively. On the other hand, none of the studied polymorphisms showed clinically relevant association with disease-free survival and overall survival or early failure to adjuvant FOLFOX therapy.

我们研究了大肠癌患者中奥沙利铂/氟尿嘧啶途径相关基因的功能多态性反应和毒性的预测价值。一百二十七（127）例患者接受了预期的根治性手术，随后接受了FOLFOX（氟尿嘧啶，亚叶酸和奥沙利铂）方案的辅助化疗。中位年龄为65.53（27-80）岁（男性66.9％，直肠59.1％）。中位随访时间为8.5年（IQR，4.1-9.4）。随访结束时，整个研究人群中有59例（46.5％）复发或死亡。我们确实发现XRCC1GG基因型与发生血液学毒性的较高风险相关。此外，我们报道TS 3'UTR 6 bp / 6 bp多态性与XRCC1 rs25487分别与发生贫血和腹泻的较高风险显着相关。