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

ABSTRACT:

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 hospitals into the Ohio Colorectal Cancer Prevention Initiative from January 1, 2013, to June 20, 2016. Mismatch repair (MMR) deficiency was determined by microsatellite instability and/or immunohistochemistry. Germline DNA was tested for mutations in 25

SUBMITTER: Pearlman R 

PROVIDER: S-EPMC5564179 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature