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Updated: Aug 25, 2025
11:02
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
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Molecular approaches in cancer
Ejaj Ahmad1, Asgar Ali1, Nimisha1
1Central Molecular Laboratory, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research (GIPMER), New Delhi 110002, India.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|October 16, 2022
Summary
Cancer diagnosis relies on molecular techniques to detect genetic markers. This review covers methods like next-generation sequencing for improved early detection, treatment, and patient outcomes.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Cancer is a leading global cause of death with increasing incidence.
- Early cancer detection is crucial for reducing mortality and morbidity.
- Identifying cancer-specific genetic and epigenetic markers requires sensitive diagnostic techniques.
Purpose of the Study:
- To review key molecular techniques for detecting genetic mutations in cancer.
- To highlight the features and applications of these technologies.
- To emphasize their role in improving cancer diagnosis, treatment, and outcomes.
Main Methods:
- Fluorescence in situ hybridization (FISH)
- Polymerase Chain Reaction (PCR)
- DNA microarray
- NanoString technologies
- Next-generation sequencing (NGS) for whole genome, exome, and transcriptome analysis.
Main Results:
- These molecular techniques offer high sensitivity and specificity for detecting cancer markers.
- NGS provides comprehensive genomic and transcriptomic data for detailed analysis.
- The reviewed methods enable the identification of various genetic mutations.
Conclusions:
- Advanced molecular techniques are vital for early and accurate cancer diagnosis.
- Improved diagnostic capabilities lead to better treatment strategies and patient outcomes.
- Continued development in molecular diagnostics promises further advancements in oncology.
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