From the University of Michigan Health System, Ann Arbor, MI.
J Clin Oncol. 2015 Jun 1;33(16):1721-8. doi: 10.1200/JCO.2014.60.6764. Epub 2015 Apr 27.
Genetic and epigenetic alterations identified in tumors of different cancer types can provide insights regarding the roles played by different cell signaling pathways in carcinogenesis. Somatic mutation profiles of GI tumors are used to guide choice of chemotherapy and can facilitate identification of individuals whose cancers arise in the setting of genetic predisposition. This review provides a framework for how clinical history, family history of cancer, and tumor genomic phenotype can be used to screen patients with colorectal, gastric, or pancreatic cancer for hereditary cancer syndromes. Early identification of individuals who carry germline mutations can affect clinical care not only for patients with cancer but also for their at-risk relatives.
不同癌症类型的肿瘤中鉴定出的遗传和表观遗传改变，可以深入了解不同细胞信号通路在肿瘤发生中的作用。胃肠道肿瘤的体细胞突变谱用于指导化疗药物的选择，并有助于确定那些在遗传易感性背景下发生癌症的个体。本文综述了如何利用临床病史、癌症家族史和肿瘤基因组表型，对结直肠癌、胃癌或胰腺癌患者进行遗传性癌症综合征筛查。早期识别携带种系突变的个体不仅会影响癌症患者的临床护理，也会影响其高危亲属的临床护理。
