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;
D O I
暂无
中图分类号
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.
引用
收藏
页码:223 / 239
页数:16
相关论文
共 50 条
  • [41] Risk assessment and genetic counseling for Lynch syndrome - Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
    Holter, Spring
    Hall, Michael J.
    Hampel, Heather
    Jasperson, Kory
    Kupfer, Sonia S.
    Haidle, Joy Larsen
    Mork, Maureen E.
    Palaniapppan, Selvi
    Senter, Leigha
    Stoffel, Elena M.
    Weissman, Scott M.
    Yurgelun, Matthew B.
    JOURNAL OF GENETIC COUNSELING, 2022, 31 (03) : 568 - 583
  • [43] Comprehensive germline multigene panel testing changes clinical care for patients with breast cancer
    Beitsch, Peter
    Whitworth, Pat
    Hughes, Kevin
    Grady, Ian
    Barbosa, Karen
    Patel, Rakesh
    Kinney, Michael
    Baron, Paul
    Rosen, Barry
    Compagnoni, Gia
    Smith, Linda Ann
    Simmons, Rache
    Coomer, Cynara
    Holmes, Dennis
    Brown, Eric
    Gold, Linsey
    Curcio, Lisa
    Clark, Patricia
    Ruiz, Tony
    MacDonald, Heather
    Khan, Sadia
    Riley, Lee
    Lyons, Sam
    Yang, Shan
    Hardwick, Mary K.
    Esplin, Edward D.
    Nussbaum, Robert L.
    CANCER RESEARCH, 2020, 80 (04)
  • [44] Benefits and safety of multigene panel testing in patients at risk for hereditary breast cancer.
    Kapoor, Nimmi S.
    Curcio, Lisa D.
    Blakemore, Carlee A.
    Bremner, Amy K.
    McFarland, Rachel E.
    West, John G.
    Banks, Kimberly C.
    JOURNAL OF CLINICAL ONCOLOGY, 2015, 33 (28)
  • [45] Detection of germline variants in Brazilian breast cancer patients using multigene panel testing
    Cruz Guindalini, Rodrigo Santa
    Viana, Danilo Vilela
    Fumio Whitaker Kitajima, Joao Paulo
    Rocha, Vinicius Marques
    Mendoza Lopez, Rossana Veronica
    Zheng, Yonglan
    Freitas, Erika
    Mendes Monteiro, Fabiola Paoli
    Valim, Andre
    Schlesinger, David
    Kok, Fernando
    Olopade, Olufunmilayo, I
    Azevedo Koike Folgueira, Maria Aparecida
    SCIENTIFIC REPORTS, 2022, 12 (01)
  • [46] Germline variants detected by multigene panel testing in patients with suspected hereditary breast cancer
    Togashi, Yusa
    Nagahashi, Masayuki
    Kashima, Mina
    Okada, Chiho
    Kinjo, Chinatsu
    Miyazaki, Ayako
    Ueda, Mako
    Tsubamoto, Hiroshi
    Sawai, Hideaki
    Miyoshi, Yasuo
    SURGERY TODAY, 2025,
  • [47] Detection of germline variants in Brazilian breast cancer patients using multigene panel testing
    Rodrigo Santa Cruz Guindalini
    Danilo Vilela Viana
    João Paulo Fumio Whitaker Kitajima
    Vinícius Marques Rocha
    Rossana Verónica Mendoza López
    Yonglan Zheng
    Érika Freitas
    Fabiola Paoli Mendes Monteiro
    André Valim
    David Schlesinger
    Fernando Kok
    Olufunmilayo I. Olopade
    Maria Aparecida Azevedo Koike Folgueira
    Scientific Reports, 12
  • [48] Genetic Variants in Patients With a Family History of Pancreatic Cancer Impact of Multigene Panel Testing
    Zhu, Huili
    Welinsky, Sara
    Soper, Emily R.
    Brown, Karen L.
    Abul-Husn, Noura S.
    Lucas, Aimee L.
    PANCREAS, 2021, 50 (04) : 602 - 606
  • [49] Multigene panel testing increases the detection of clinically actionable mutations in ovarian cancer patients
    Namey, T. L.
    LaDuca, H.
    Profato, J.
    Yussuf, A. F.
    GYNECOLOGIC ONCOLOGY, 2018, 149 : 187 - 187
  • [50] Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancer
    Heald, Brandie
    Mokhtary, Sara
    Nielsen, Sarah M.
    Rojahn, Susan
    Yang, Shan
    Michalski, Scott T.
    Esplin, Edward D.
    GYNECOLOGIC ONCOLOGY, 2022, 166 (02) : 344 - 350