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林奇综合征的基因评估与管理指南:美国结直肠癌多学会特别工作组的共识声明

Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer.

作者信息

Giardiello Francis M, Allen John I, Axilbund Jennifer E, Boland C Richard, Burke Carol A, Burt Randall W, Church James M, Dominitz Jason A, Johnson David A, Kaltenbach Tonya, Levin Theodore R, Lieberman David A, Robertson Douglas J, Syngal Sapna, Rex Douglas K

机构信息

1Johns Hopkins University School of Medicine, Baltimore, Maryland 2Yale University School of Medicine, New Haven, Connecticut 3Baylor University Medical Center at Dallas, Texas 4Cleveland Clinic, Cleveland, Ohio 5University of Utah, Salt Lake City, Utah 6VA Puget Sound Health Care System, Seattle, Washington 7University of Washington, Seattle, Washington 8Eastern Virginia Medical School, Norfolk, Virginia 9Stanford University, Palo Alto, California 10Kaiser Permanente Medical Center, Walnut Creek, California 11Oregon Health and Science University, Portland, Oregon 12White River Junction VA Medical Center, White River Junction, Vermont 13Geisel School of Medicine at Dartmouth, White River Junction, Vermont 14Brigham and Women's Hospital, Boston, Massachusetts 15Dana Farber Cancer Institute, Boston, Massachusetts 16Harvard Medical School, Boston, Massachusetts 17Indiana University School of Medicine, Indianapolis, Indiana.

出版信息

Dis Colon Rectum. 2014 Aug;57(8):1025-48. doi: 10.1097/DCR.000000000000000.

Abstract

The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to assist health care providers with the appropriate provision of genetic testing and management of patients at risk for and affected with Lynch syndrome as follows: provides a colorectal cancer risk assessment tool to screen individuals in the office or endoscopy setting; illustrates a strategy for universal screening for Lynch syndrome by tumor testing of patients diagnosed with colorectal cancer; -6 provide algorithms for genetic evaluation of affected and at-risk family members of pedigrees with Lynch syndrome; provides guidelines for screening at-risk and affected persons with Lynch syndrome; and lists the guidelines for the management of patients with Lynch syndrome. A detailed explanation of Lynch syndrome and the methodology utilized to derive these guidelines, as well as an explanation of, and supporting literature for, these guidelines are provided.

摘要

多学会特别工作组与特邀专家合作,制定了指南,以协助医疗保健提供者对林奇综合征风险患者和患者进行适当的基因检测和管理,具体如下:提供一种结直肠癌风险评估工具,用于在诊室或内镜检查环境中筛查个体;阐述通过对诊断为结直肠癌的患者进行肿瘤检测对林奇综合征进行普遍筛查的策略;提供林奇综合征家系中受影响和有风险家庭成员的基因评估算法;提供对林奇综合征有风险和受影响者进行筛查的指南;列出林奇综合征患者的管理指南。还提供了林奇综合征的详细解释、用于制定这些指南的方法,以及这些指南的解释和支持文献。

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