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Germline cancer susceptibility gene testing in unselected patients with colorectal adenocarcinoma: A multi-center prospective study

Clinical Gastroenterology and Hepatology Apr 16, 2021

Uson PLS, Riegert-Johnson D, Boardman L, et al. - Researchers sought to determine the prevalence of pathogenic germline variants (PGV) in colorectal cancer (CRC) patients utilizing a universal testing approach, how they are linked with clinical outcomes, and the uptake of family variant testing. They conducted a prospective multi-site study of germline sequencing using an >80 gene NGS platform among CRC patients (not chosen based on age or family history) treated at Mayo Clinic Cancer Centers between April 1, 2018 and March 31, 2020. In comparison to guideline-based testing, universal multi-gene panel testing in CRC was correlated with a modest but significant increase in the detection of heritable mutations. One out of every ten patients had their treatment modified as a result of test results. Cascade family testing was not widely used, which is a concerning finding that warrants further investigation.

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