Fabišíková Katarína, Behulová Regina Lohajová, Repiska Vanda
Institute of Medical Biology, Genetics and Clinical Genetics, LFUK, Sasinkova 4, 811 08 Bratislava, Slovakia.
Department of Clinical Genetics, St. Elizabeth Cancer Institute, Heydukova 10, 812 50 Bratislava, Slovakia.
Neuro Endocrinol Lett. 2019 Dec;40(5):215-221.
Colorectal cancer (CRC) is currently a well-known and studied issue in experimental research. Worldwide it is the third most common cancer in men and the second most common cancer in women. 70-80% of cases occur sporadically. Most CRCs develop from adenomas. The transition from normal epithelium to adenoma and finally into carcinoma is associated with acquired molecular events. In 5-10 % of cases, CRC develops from germline mutations in cancer-predisposing genes. 15% of patients have a family history of CRC that suggests a hereditary contribution, common exposures or shared risk factors among family members. Genetic alterations in cancer-related genes represent prognostic and predictive CRC biomarkers. Genetic testing of individuals with newly diagnosed CRC as well as of asymptomatic relatives can lead to improved outcomes for the patient and at-risk family members. Discovery of circulating cell-free tumor DNA (ctDNA) promises an improvement of the CRC diagnostics. ctDNA shares common genetic alterations with the primary tumor so it allows non-invasive monitoring of the disease over time. This review is focused on the principal molecular biomarkers associated with CRC and on the key characteristics of initiation and progression of CRC including chromosomal instability, microsatellite instability and signaling pathways where this deregulation leads to tumorigenesis.
结直肠癌（CRC）目前是实验研究中一个广为人知且经过深入研究的课题。在全球范围内，它是男性中第三大常见癌症，女性中第二大常见癌症。70 - 80%的病例为散发性。大多数结直肠癌由腺瘤发展而来。从正常上皮细胞转变为腺瘤并最终发展为癌与获得性分子事件相关。在5 - 10%的病例中，结直肠癌由癌症易感基因的种系突变发展而来。15%的患者有结直肠癌家族史，提示遗传因素、共同暴露或家庭成员之间共享的风险因素。癌症相关基因的遗传改变代表了结直肠癌的预后和预测生物标志物。对新诊断的结直肠癌患者及其无症状亲属进行基因检测可改善患者及高危家庭成员的预后。循环游离肿瘤DNA（ctDNA）的发现有望改善结直肠癌的诊断。ctDNA与原发性肿瘤具有共同的遗传改变，因此它允许对疾病进行长期的非侵入性监测。本综述聚焦于与结直肠癌相关的主要分子生物标志物以及结直肠癌发生和进展的关键特征，包括染色体不稳定性、微卫星不稳定性以及信号通路，这些信号通路的失调会导致肿瘤发生。
