Inherited colorectal cancer syndromes.
Inherited colorectal cancer syndromes.
复制标题
DOI：
10.1097/ppo.0b013e318237e408
复制
发表时间：
2011-11
期刊：
影响因子：
--
通讯作者：
Syngal S
中科院分区：
文献类型：
--
作者：
Kastrinos F;Syngal S
结直肠癌是最常见的胃肠道恶性肿瘤，也是美国男性和女性癌症死亡的第二大原因。每年诊断的大多数结直肠癌病例都是由散发事件引起的，但高达 5% 的病例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病综合征。这些遗传性结直肠癌综合征会显着增加患多种癌症的风险，并且可以进行预测性基因检测来识别突变携带者和高危家庭成员。通过个性化的诊断和管理策略，结直肠癌风险最高的患者的发病率和死亡率大幅降低。
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.