Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics

通过常规诊断中的靶向下一代测序分析了解瑞士 512 名结肠直肠癌患者队列中分子变异的患病率

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作者:Simon Haefliger, Katharina Marston, Ilaria Alborelli, Edouard-Jean Stauffer, Mathias Gugger, Philip M Jermann, Sylvia Hoeller, Luigi Tornillo, Luigi M Terracciano, Michel Bihl, Matthias S Matter

Conclusions

Our analysis revealed the prevalence of potential predictive markers in a large cohort of CRC patients obtained during routine diagnostic analysis. Furthermore, our study is the first of this size to uncover the molecular landscape of CRC in Switzerland.

Results

Pathogenic and likely pathogenic variants were found in 462 (90%) CRC patients. Variants were detected in TP53 (54.3%), KRAS (48.2%), PIK3CA (15.6%), BRAF (13.5%), SMAD4 (10.5%), FBXW7 (7.8%), NRAS (3.5%), PTEN (2.7%), ERBB2 (1.6%), AKT1 (1.5%), and CTNNB1 (0.9%). The remaining pathogenic alterations were found in the genes ATM(n= 1), MAP2K1(n= 1), and IDH2(n= 1).

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