医学
家族性腺瘤性息肉病
结直肠癌
林奇综合征
穆提
癌症
家族史
基因检测
大肠腺瘤性息肉病
内科学
肿瘤科
遗传咨询
遗传综合征
皮肤病科
种系突变
突变
DNA错配修复
遗传学
儿科
基因
生物
作者
Priyanka Kanth,Jade Grimmett,Marjan Champine,Randall W. Burt,N. Jewel Samadder
摘要
Colorectal cancer (CRC) is the fourth most common cancer amongst men and women. Between 3 and 6% of all CRCs are attributed to well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), and several hamartomatous polyposis conditions. Identification of these patients through family history and appropriate genetic testing can provide estimates of cancer risk that inform appropriate cancer screening, surveillance and/or preventative interventions. This narrative review examines the hereditary colorectal cancer and polyposis syndromes, their genetic basis, clinical management, and evidence supporting cancer screening.
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