Site specific genetic differences in colorectal cancer via Next-Generation-Sequencing using a multigene panel

Area of Science:

• Oncology
• Genomics
• Personalized Medicine

Background:

• Colorectal cancer (CRC) management benefits from precise molecular profiling.
• Next-generation sequencing (NGS) offers a comprehensive approach to identify actionable mutations in CRC.
• Understanding site-specific genomic differences is crucial for tailoring CRC therapies.

Purpose of the Study:

• To review site-specific differences in actionable mutations in colorectal cancer.
• To evaluate the potential benefits of actionable mutation panels in relation to clinicopathological features.
• To assess the utility of NGS for guiding personalized therapy in CRC.

Main Methods:

• Analyzed tumor tissues from 106 colorectal cancer patients using NGS.
• Targeted 11 key genes (EGFR, ALK, KRAS, NRAS, KIT, BRAF, PDGFRA, ERBB2, ERBB3, ESR1, RAF1) for actionable variants.
• Correlated mutation profiles with clinicopathological features and drug resistance patterns.

Main Results:

• Mutations were identified in KRAS (43), EGFR (7), NRAS (6), BRAF (6), KIT (3), ERBB2 (1), PDGFRA (1), and RAF1 (1).
• Mutation frequency was highest in the right colon group.
• The right colon group exhibited the highest drug resistance (53.1%) to Cetuximab and Panitumumab.

Conclusions:

• Actionable multigene panels via NGS are valuable for clinical decision-making in colorectal cancer.
• NGS facilitates prediction of therapeutic response and prognosis.
• Genomic profiling guides personalized treatment strategies and identifies novel therapeutic opportunities.