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Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.
Familial Cancer ( IF 1.8 ) Pub Date : 2020-03-14 , DOI: 10.1007/s10689-020-00170-9
Brandie Heald 1 , Heather Hampel 2 , James Church 1 , Beth Dudley 3 , Michael J Hall 4 , Maureen E Mork 5 , Aparajita Singh 6 , Elena Stoffel 7 , Jessica Stoll 8 , Y Nancy You 5 , Matthew B Yurgelun 9 , Sonia S Kupfer 8 ,
Affiliation  

Multigene panel tests for hereditary cancer syndromes are increasingly utilized in the care of colorectal cancer (CRC) and polyposis patients. However, widespread availability of panels raises a number of questions including which patients should undergo testing, which genes should be included on panels, and the settings in which panels should be ordered and interpreted. To address this knowledge gap, key questions regarding the major issues encountered in clinical evaluation of hereditary CRC and polyposis were designed by the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position Statement Committee and leadership. A literature search was conducted to address these questions. Recommendations were based on the best available evidence and expert opinion. This position statement addresses which genes should be included on a multigene panel for a patient with a suspected hereditary CRC or polyposis syndrome, proposes updated genetic testing criteria, discusses testing approaches for patients with mismatch repair proficient or deficient CRC, and outlines the essential elements for ordering and disclosing multigene panel test results. We acknowledge that critical gaps in access, insurance coverage, resources, and education remain barriers to high-quality, equitable care for individuals and their families at increased risk of hereditary CRC.

中文翻译:

美洲合作小组关于胃肠道癌和/或息肉病患者的多基因面板检测的立场声明。

遗传性癌症综合症的多基因面板检测越来越多地用于大肠癌(CRC)和息肉病患者的护理中。然而,专家组的广泛可用性引发了许多问题,包括哪些患者应接受测试,哪些基因应包括在专家组中以及应定购和解释专家组的设置。为了解决这一知识鸿沟,由遗传性胃肠道疾病立场声明委员会和领导的美洲合作小组设计了关于遗传性CRC和息肉病临床评估中遇到的主要问题的关键问题。进行文献检索以解决这些问题。建议基于最佳的现有证据和专家意见。该立场声明阐述了对于疑似遗传性CRC或息肉病综合征患者应在多基因面板中包括哪些基因,提出更新的基因检测标准,讨论对错配修复熟练或缺乏CRC的患者的检测方法,并概述订购和披露多基因检测结果。我们承认,在遗传性CRC风险增加的情况下,在获得机会,保险覆盖范围,资源和教育方面的重大差距仍然是为个人及其家庭提供高质量,平等护理的障碍。并概述了订购和披露多基因检测结果的基本要素。我们承认,在遗传性CRC风险增加的情况下,在获得机会,保险覆盖范围,资源和教育方面的重大差距仍然是为个人及其家庭提供高质量,平等护理的障碍。并概述了订购和披露多基因检测结果的基本要素。我们承认,在遗传性CRC风险增加的情况下,在获得机会,保险覆盖范围,资源和教育方面的重大差距仍然是为个人及其家庭提供高质量,平等护理的障碍。
更新日期:2020-03-14
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