Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis

被引:0
|
作者
Brandie Heald
Heather Hampel
James Church
Beth Dudley
Michael J. Hall
Maureen E. Mork
Aparajita Singh
Elena Stoffel
Jessica Stoll
Y. Nancy You
Matthew B. Yurgelun
Sonia S. Kupfer
机构
[1] Cleveland Clinic,Sanford R Weiss, MD, Center for Hereditary Colorectal Neoplasia
[2] The Ohio State University,Division of Human Genetics, Department of Internal Medicine and the Comprehensive Cancer Center
[3] University of Pittsburgh,Department of Medicine
[4] Fox Chase Cancer Center,Department of Clinical Genetics
[5] University of Texas MD Anderson Cancer Center,Department of Clinical Cancer Genetics
[6] University of California San Francisco,Department of Medicine, Division of Gastroenterology
[7] University of Michigan,Division of Gastroenterology, Department of Internal Medicine
[8] University of Chicago,Gastrointestinal Cancer Risk and Prevention Clinic
[9] Dana-Farber Cancer Institute,Department of Medical Oncology
来源
Familial Cancer | 2020年 / 19卷
关键词
Inherited colorectal cancer; Lynch syndrome; Multigene panel testing; Next-generation sequencing; Polyposis; Position statement;
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学科分类号
摘要
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.
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页码:223 / 239
页数:16
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