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遗传性和常见的家族性结直肠癌:结直肠癌筛查的证据

Hereditary and common familial colorectal cancer: evidence for colorectal screening.

作者信息

Samadder N Jewel, Jasperson Kory, Burt Randall W

机构信息

High Risk GI Cancers Program, Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Salt Lake City, UT, 84112, USA,

出版信息

Dig Dis Sci. 2015 Mar;60(3):734-47. doi: 10.1007/s10620-014-3465-z. Epub 2014 Dec 12.

Abstract

Colorectal cancer (CRC) is the fourth most common cancer among men and women. Between 3 and 6% of all CRCs are attributed to well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis and several hamartomatous conditions. Up to 30% of CRC cases exhibit common familial risk, likely related to a combination of inherited factors and environment. 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 article examines the colon cancer syndromes, their genetic basis, clinical management and evidence supporting colorectal screening. It also deals with the category of common (non-syndromic) familial risk including risk determination and screening guidelines.

摘要

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、MUTYH相关息肉病以及几种错构瘤性疾病。高达30%的结直肠癌病例表现出常见的家族风险,这可能与遗传因素和环境的综合作用有关。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。本文探讨了结肠癌综合征、其遗传基础、临床管理以及支持结直肠癌筛查的证据。它还涉及常见(非综合征性)家族风险类别,包括风险判定和筛查指南。

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