Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY, USA.
Cancer J. 2011 Nov-Dec;17(6):405-15. doi: 10.1097/PPO.0b013e318237e408.
Colorectal cancer is the most common gastrointestinal malignancy and the second leading cause of cancer death in both men and women in the United States. Most colorectal cancer cases diagnosed annually are due to sporadic events, but up to 5% are attributed to known monogenic disorders including Lynch syndrome, familial adenomatous polyposis, MYH-associated polyposis, and the rare hamartomatous polyposis syndromes. These inherited colorectal cancer syndromes confer a markedly increased risk for the development of multiple cancers, and predictive genetic testing is available to identify mutation carriers and at-risk family members. Through personalized strategies for diagnosis and management, a substantial reduction in morbidity and mortality has been appreciated among patients at highest risk for the development of colorectal cancer.
结直肠癌是美国男性和女性最常见的胃肠道恶性肿瘤,也是癌症死亡的第二大主要原因。每年诊断出的大多数结直肠癌病例是由于偶发事件引起的,但多达 5%归因于已知的单基因疾病,包括林奇综合征、家族性腺瘤性息肉病、MYH 相关息肉病和罕见的错构瘤性息肉综合征。这些遗传性结直肠癌综合征显著增加了多种癌症的发病风险,可进行预测性遗传检测以识别突变携带者和高危家庭成员。通过针对诊断和管理的个性化策略,在结直肠癌发病风险最高的患者中,发病率和死亡率显著降低。