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Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer

Key Points
Question  What is the frequency and spectrum of cancer susceptibility gene mutations among patients with colorectal cancer diagnosed at younger than 50 years?
Findings  In this cohort study of 450 patients with early-onset colorectal cancer, 72 (16%) had a pathogenic mutation. Panel testing identified mutations in patients that may have otherwise been missed; specifically, 24 of 72 patients (33.3%) who were mutation positive did not meet testing criteria for the gene(s) in which they had a mutation.
Meaning  Multigene panel testing should be considered for all patients with early-onset colorectal cancer.
Testing Strategy

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