Sanford R Weiss, MD, Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA.
Division of Human Genetics, Department of Internal Medicine and the Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA.
Fam Cancer. 2020 Jul;19(3):223-239. doi: 10.1007/s10689-020-00170-9.
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.
多基因面板检测用于遗传性癌症综合征在结直肠癌(CRC)和息肉病患者的治疗中越来越普及。然而,面板的广泛应用引发了许多问题,包括哪些患者应接受检测、面板应包含哪些基因,以及应在何种情况下订购和解释面板。为了弥补这一知识空白,由美洲遗传性胃肠道癌症共识声明委员会的协作组和领导层设计了有关遗传性 CRC 和息肉病临床评估中遇到的主要问题的关键问题。进行了文献检索以解决这些问题。建议基于最佳现有证据和专家意见。本立场声明针对疑似遗传性 CRC 或息肉病综合征患者的多基因面板应包含哪些基因,提出了更新的基因检测标准,讨论了错配修复功能正常或缺失的 CRC 患者的检测方法,并概述了订购和披露多基因面板检测结果的基本要素。我们承认,在获得、保险覆盖、资源和教育方面仍然存在重大差距,这是增加 CRC 遗传风险的个人及其家庭获得高质量、公平医疗的障碍。