Kanth Priyanka, Grimmett Jade, Champine Marjan, Burt Randall, Samadder N Jewel
Department of Medicine (Gastroenterology), University of Utah, Salt Lake City, Utah, USA.
Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
Am J Gastroenterol. 2017 Oct;112(10):1509-1525. doi: 10.1038/ajg.2017.212. Epub 2017 Aug 8.
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.
结直肠癌(CRC)是男性和女性中第四大常见癌症。所有结直肠癌中,有3%至6%归因于明确的遗传性综合征,包括林奇综合征、家族性腺瘤性息肉病(FAP)、MUTYH相关息肉病(MAP)以及几种错构瘤性息肉病情况。通过家族史和适当的基因检测识别这些患者,可以提供癌症风险评估,为适当的癌症筛查、监测和/或预防性干预提供依据。本叙述性综述探讨了遗传性结直肠癌和息肉病综合征、其遗传基础、临床管理以及支持癌症筛查的证据。