Mucinous colorectal cancer is a unique histological subtype that is known to respond poorly to cytotoxic chemotherapy and radiotherapy. There are a number of genes known to be associated with resistance to 5-fluorouracil (5-FU), oxaliplatin, and irinotecan. The aim of this study was to compare the somatic mutation frequency and copy number variation (CNV) in these genes between mucinous and non-mucinous colorectal cancer. A systematic search of PubMed was performed to identify papers investigating drug resistance in colorectal cancer. From this review, a list of 26 drug-resistance-associated genes was compiled. Using patient data from The Cancer Genome Atlas (TCGA), the somatic mutation rate and CNV was compared between patients with mucinous and non-mucinous colorectal cancer. Statistical analysis was carried out using GraphPad PRISM® version 5.00. Data were available on 531 patients (464 non-mucinous, 67 mucinous). A statistically significant difference in the somatic mutation rate between the two cohorts was identified in the TYMP (p = 0.0179), ATP7B (p = 0.0465), SRPK1 (p = 0.0135), ABCB1 (p = 0.0423), and ABCG2 (p = 0.0102) genes. A statistically significant difference in CNV was identified between the two cohorts in the GSTP1 (p = 0.0405), CCS (p = 0.0063), and TOP1 (p = 0.0048) genes. Differences in somatic mutation rate and CNV in genes associated with resistance to 5-FU, oxaliplatin, and irinotecan may partly account for the pattern of resistance observed in mucinous colorectal cancers. These genetic alterations may prove useful when deciding on a personalized approach to chemotherapy and may also represent potential therapeutic targets going forward.

粘液性结直肠癌是独特的组织学亚型，已知对细胞毒性化学疗法和放射疗法反应较差。已知有许多与5-氟尿嘧啶（5-FU），奥沙利铂和伊立替康抗药性相关的基因。这项研究的目的是比较粘液性和非粘液性结直肠癌之间这些基因的体细胞突变频率和拷贝数变异（CNV）。对PubMed进行了系统搜索，以鉴定研究结直肠癌耐药性的论文。通过这次审查，编制了26种抗药性相关基因的清单。使用来自癌症基因组图谱（TCGA）的患者数据，比较了粘液性和非粘液性结直肠癌患者的体细胞突变率和CNV。使用GraphPadPRISM®版本5进行统计分析。00.有531例患者的数据（464例非粘液性，67例粘液性）。两个队列之间的体细胞突变率在统计学上有显着差异。TYMP（p  = 0.0179），ATP7B（p  = 0.0465），SRPK1（p  = 0.0135），ABCB1（p  = 0.0423）和ABCG2（p  = 0.0102）基因。在GSTP1（p  = 0.0405），CCS（p  = 0.0063）和TOP1（p = 0.0048）基因。与5-FU，奥沙利铂和伊立替康抗药性相关的基因中，体细胞突变率和CNV的差异可能部分解释了在粘液性大肠癌中观察到的抗药性模式。当决定个性化的化疗方法时，这些基因改变可能被证明是有用的，并且也可能代表着未来可能的治疗目标。