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Should we Offer Multigene Panel Testing to all Colorectal Cancer Patients?

Updated: Nov 13, 2022

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Professional societies currently recommend genetic testing in all patients diagnosed with colorectal under age 50, though are now considering expanding germline genetic testing in colorectal cancer patients of all ages. Previous studies have described the genetic spectrum among CRC patients from academic referral institutions, thus may not be generalizable to the general population of CRC patients.

Dr. Sarah Coughlin from the University of Pennsylvania and colleagues sought to describe the yield of multigene panel testing in a large, diverse cohort of CRC patients in their study entitled “Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Amongst Colorectal Cancer Patients.” Their findings were presented at the Collaborative Group of the Americas on Inherited Gastrointestinal Cancers (CGA-IGC) Annual Meeting in Nashville, TN on November 12th 2022 and also published in the Journal of Clinical Oncology-Precision Oncology (JCO-PO).

Their study included over 34,000 adult patients (61% female, 71% white) diagnosed with CRC between 2015-2021 who had at least 10-gene panel testing. They found that 14.2% of all patients carried at least one pathogenic or likely pathogenic variant in a cancer predisposition gene, 9.1% of which had a pathogenic variant in a CRC or polyposis gene and 3.1% in an otherwise clinically actionable gene. The authors conclude that their work supports expanding multigene panel testing to all colorectal cancer patients.

Senior author Dr. Bryson Katona from the University of Pennsylvania explained “Our work focused on the yield of multigene panel testing across the largest and most diverse cohort of colorectal cancer patients to date, showing that 14.2% of these patient carried a pathogenic germline variant. There were high rates of clinically actionable germline variants regardless of the age of testing or number of genes testing, and importantly these rates were also high across all races and ethnicities. We believe that these findings support broadening eligibility for CRC patients to undergo multigene panel testing"

The full article can be accessed at JCO-PO.


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