Objective: To investigate the frequency and prognostic role of the human epidermal growth factor receptor 2 gene () and V600E gene mutation in Chinese patients with colorectal cancer (CRC).

Methods: Clinicopathological and survival information from 480 patients with stage I-III CRC were reviewed and recorded. amplification was analyzed by immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH), V600E mutation was tested by IHC and Sanger sequencing. The relationship between and V600E mutation status and clinicopathological characteristics and outcomes were determined.

Results: The amplification of and V600E mutation were identified in 27 of 480 (5.63%) and 19 of 480 (3.96%) CRC patients, respectively. amplification significantly correlated with greater bowel wall invasion ( = 0.041) and more advanced TNM stage (I vs. II vs. III; 0 vs 5.78% vs. 7.41%, = 0.013). Patients suffering from tumors with poor differentiation had a higher incidence rate of V600E mutation than those with moderate/well differentiation (7.77% vs 2.92%, = 0.04). amplification was an independent prognostic factor for worse disease-free survival (DFS) (HR = 2.53, 95% CI: 1.21-5.30, = 0.014).

Conclusion: The prevalence of amplification and V600E mutation in stage I-III CRC patients in Chinese was 6% and 4%, respectively, and amplification appeared to be associated with a worse DFS. More comprehensive molecular classification and survival analysis are needed to validate our findings.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7023828PMC
http://dx.doi.org/10.7717/peerj.8602DOI Listing

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