遗传性结直肠癌：遗传学与筛查
Hereditary Colorectal Cancer: Genetics and Screening.
作者信息
Brosens Lodewijk A A, Offerhaus G Johan A, Giardiello Francis M
机构信息
Department of Pathology, University Medical Center Utrecht (H04-312), Heidelberglaan 100, Utrecht 3584 CX, The Netherlands; Department of Pathology, The Johns Hopkins University School of Medicine, CRB 2, Room 345, 1550 Orleans Street, Baltimore, MD 21231, USA.
Department of Pathology, University Medical Center Utrecht (H04-312), Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.
出版信息
Surg Clin North Am. 2015 Oct;95(5):1067-80. doi: 10.1016/j.suc.2015.05.004. Epub 2015 Jun 16.
Abstract
Colorectal cancer (CRC) is the third most common cancer and the third leading cause of cancer death in men and women in the United States. About 30% of patients with CRC report a family history of CRC. However, only 5% of CRCs arise in the setting of a well-established mendelian inherited disorder. In addition, serrated polyposis is a clinically defined syndrome with multiple serrated polyps in the colorectum and an increased CRC risk for which the genetics are unknown. This article focuses on genetic and clinical aspects of Lynch syndrome, familial adenomatous polyposis, and MUTYH-associated polyposis.
摘要
结直肠癌（CRC）是美国男性和女性中第三常见的癌症，也是癌症死亡的第三大主要原因。约30%的CRC患者报告有CRC家族史。然而，只有5%的CRC发生在已明确的孟德尔遗传疾病背景下。此外，锯齿状息肉病是一种临床定义的综合征，其在结肠直肠中有多个锯齿状息肉，且患CRC风险增加，但其遗传学尚不清楚。本文重点关注林奇综合征、家族性腺瘤性息肉病和MUTYH相关息肉病的遗传和临床方面。
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