Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer

R Pearlman, WL Frankel, B Swanson, W Zhao… - JAMA …, 2017 - jamanetwork.com
Importance Hereditary cancer syndromes infer high cancer risks and require intensive
cancer surveillance, yet the prevalence and spectrum of these conditions among unselected
patients with early-onset colorectal cancer (CRC) is largely undetermined. Objective To
determine the frequency and spectrum of cancer susceptibility gene mutations among
patients with early-onset CRC. Design, Setting, and Participants Overall, 450 patients
diagnosed with colorectal cancer younger than 50 years were prospectively accrued from 51 …