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Evaluation of Colorectal Cancer Risk and Prevalence by Stool DNA Integrity Detection
Published on: June 8, 2020
Molecular testing for colorectal cancer: Clinical applications
Evgeny Imyanitov1, Ekaterina Kuligina1
1Department of Tumor Biology, N.N. Petrov Institute of Oncology, St.-Petersburg 197758, Russia.
Abstract:
Molecular genetic analysis is an integral part of colorectal cancer (CRC) management. The choice of systemic therapy for CRC is largely based on the results of tumor molecular testing. Evaluation of the KRAS and NRAS gene status is mandatory for consideration of anti-epidermal growth factor receptor (EGFR) therapy. Tumors with the BRAF V600E substitution are characterized by aggressive behaviour, may require intensified cytotoxic regimens and benefit from combined BRAF and EGFR inhibition. The inactivation of DNA mismatch repair (MMR), or MUTYH gene, or DNA polymerase epsilon results in excessive tumor mutational burden; these CRCs are highly antigenic and therefore sensitive to immune checkpoint inhibitors. Some CRCs are characterized by overexpression of the HER2 oncogene and respond to the appropriate targeted therapy. There are CRCs with clinical signs of hereditary predisposition to this disease, which require germline genetic testing. Liquid biopsy is an emerging technology that has the potential to assist CRC screening, control the efficacy of surgical intervention and guide disease monitoring. The landscape of CRC molecular diagnosis is currently undergoing profound changes due to the increasing use of next generation sequencing.
Insights
Molecular genetic testing guides colorectal cancer (CRC) treatment, identifying targets for therapies like anti-EGFR, BRAF inhibitors, and immune checkpoint inhibitors. Emerging liquid biopsy techniques aid in screening and monitoring CRC progression.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Molecular genetic analysis is crucial for personalized colorectal cancer (CRC) management.
- Treatment decisions for CRC largely depend on tumor molecular testing results.
- Key genetic alterations influence therapeutic strategies and patient prognosis.
Purpose of the Study:
- To review the significance of molecular genetic analysis in colorectal cancer management.
- To highlight the role of specific gene mutations (KRAS, NRAS, BRAF) and biomarkers (MMR, HER2) in guiding therapy.
- To discuss the evolving landscape of CRC molecular diagnostics, including next-generation sequencing and liquid biopsy.
Main Methods:
- Review of current literature on molecular genetic testing in colorectal cancer.
- Analysis of established and emerging molecular targets and biomarkers.
- Discussion of the impact of genetic profiling on treatment selection.
Main Results:
- KRAS/NRAS mutation status is mandatory for anti-EGFR therapy selection.
- BRAF V600E mutations indicate aggressive disease and potential benefit from combined BRAF/EGFR inhibition.
- MMR deficiency, MUTYH inactivation, or DNA polymerase epsilon alterations lead to high tumor mutational burden, sensitizing CRCs to immune checkpoint inhibitors.
- HER2 overexpression identifies CRCs responsive to targeted therapy.
- Germline genetic testing is essential for suspected hereditary CRC.
- Liquid biopsy shows promise for CRC screening, surgical efficacy assessment, and disease monitoring.
Conclusions:
- Molecular genetic analysis is indispensable for tailoring systemic therapy in colorectal cancer.
- Next-generation sequencing and liquid biopsy are transforming CRC molecular diagnostics and patient management.
- Understanding the molecular profile of CRC enables targeted interventions and improves patient outcomes.
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