Department of General Surgery, Manchester Royal Infirmary Department of Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester University Hospitals Trust, Manchester, UK.
Colorectal Dis. 2012 Jan;14(1):3-17. doi: 10.1111/j.1463-1318.2010.02439.x.
Advances in molecular technology have resulted in the discovery of many putative biomarkers relevant to colorectal cancer (CRC).
Literature searches were performed on PubMed and EMBASE using the words 'colorectal cancer', AND 'biomarkers OR markers'. Biomarkers that are either currently in clinical use or have potential clinical use were identified.
Most potential markers are in the discovery phase waiting to undergo clinical validation. Hypermethylation of the plasma septin-9 gene shows promise as a nonstool-based screening tool. Hypermethylation of the DYPD gene (encodes the enzyme dihydropyrimidine dehydrogenase) and variation of the uridine diphosphate-glucuronosyltransferase 1A (UGT1A1) gene have predictive value for side effects and the efficacy of 5-fluoruracil and irinotecan, respectively. Mismatch repair protein immunohistochemistry is able to predict response to 5-fluorouracil, and the KRAS (Kirsten rat sarcoma viral oncogene) and B-RAF (v-RAF murine sarcoma viral oncogene homolog B1) somatic gene mutation status can predict the response to anti-epidermal growth factor receptor therapy.
Recent advances indicate that the widespread use of biomarkers may herald the next major advance in the diagnosis and management of CRC.
分子技术的进步使得许多与结直肠癌（CRC）相关的潜在生物标志物被发现。
在 PubMed 和 EMBASE 上使用“colorectal cancer”和“biomarkers OR markers”进行文献检索，确定目前正在临床应用或具有潜在临床应用价值的生物标志物。
大多数潜在标志物仍处于发现阶段，有待临床验证。血浆 septin-9 基因的高甲基化有望成为一种非粪便为基础的筛查工具。 DYPD 基因（编码二氢嘧啶脱氢酶）的高甲基化和尿苷二磷酸-葡萄糖醛酸转移酶 1A（UGT1A1）基因的变异分别对 5-氟尿嘧啶和伊立替康的副作用和疗效具有预测价值。错配修复蛋白免疫组化能够预测对 5-氟尿嘧啶的反应，KRAS（Kirsten 大鼠肉瘤病毒致癌基因）和 B-RAF（v-RAF 鼠肉瘤病毒致癌基因同源物 B1）体细胞基因突变状态可以预测抗表皮生长因子受体治疗的反应。
最近的进展表明，生物标志物的广泛应用可能预示着 CRC 诊断和管理的下一个重大进展。
