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Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted
Simon Haefliger1, Katharina Marston2, Ilaria Alborelli2
1Pathology, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland, s.haefliger@hotmail.com.
Introduction:
Colorectal carcinoma (CRC) is among the most common carcinomas in women and men. In the advanced stage, patients are treated based on the RAS status. Recent studies indicate that in the future, in addition to KRAS and NRAS, alterations in other genes, such as PIK3CA or TP53, will be considered for therapy. Therefore, it is important to know the mutational landscape of routinely diagnosed CRC.
Method:
We report the molecular profile of 512 Swiss CRC patients analyzed by targeted next-generation sequencing as part of routine diagnostics at our institute.
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).
Discussion/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.
Insights
This study analyzed the molecular profile of 512 Swiss colorectal cancer (CRC) patients, revealing frequent mutations in TP53, KRAS, and PIK3CA. These findings highlight key genetic alterations for potential targeted therapies in CRC.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Colorectal carcinoma (CRC) is a prevalent cancer globally, affecting both men and women.
- Current advanced CRC treatment relies on RAS gene mutation status.
- Emerging research suggests incorporating additional gene alterations (e.g., PIK3CA, TP53) into future therapeutic strategies.
Purpose of the Study:
- To determine the comprehensive mutational landscape of routinely diagnosed colorectal cancer (CRC) in Switzerland.
- To identify the prevalence of genetic variants relevant for current and future CRC therapies.
Main Methods:
- Targeted next-generation sequencing (NGS) was employed.
- The molecular profiles of 512 Swiss CRC patients were analyzed.
- Analysis was conducted as part of routine diagnostic procedures.
Main Results:
- Pathogenic or likely pathogenic variants were identified in 90% (462/512) of CRC patients.
- The most frequent variants were in TP53 (54.3%), KRAS (48.2%), PIK3CA (15.6%), and BRAF (13.5%).
- Other notable variants included SMAD4 (10.5%), FBXW7 (7.8%), and NRAS (3.5%).
Conclusions:
- This study presents the molecular profile of a large CRC cohort in Switzerland.
- The findings reveal a high prevalence of potential predictive markers for targeted therapies in CRC.
- Understanding the CRC mutational landscape is crucial for advancing personalized treatment strategies.
