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

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.

Keywords: Inherited colorectal cancer; Lynch syndrome; Multigene panel testing; Next-generation sequencing; Polyposis; Position statement.

Publication types

  • Practice Guideline
  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Age Factors
  • Colorectal Neoplasms / genetics*
  • DNA Mismatch Repair*
  • Gastrointestinal Neoplasms / genetics
  • Genetic Counseling
  • Genetic Testing / methods*
  • Humans
  • Middle Aged
  • Neoplastic Syndromes, Hereditary / genetics