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Updated: Jun 6, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
[Towards an inventory of oncogenic mutations in cancer]
1Institut de recherche en cancérologie de Montpellier, Université de Montpellier-I, Montpellier, France. charles.theillet@valdorel.fnclcc.fr
Abstract:
The discovery of oncogenes and tumor suppressors has established the original concept of cancer development based on a cascade of spontaneously occurring somatic mutations. It is now well known that genomes of cancer cells are deeply rearranged and that these rearrangements have devastating consequences on their organization and function. These rearrangements and their functional consequences are increasingly well characterized leading to the identification of numerous novel mutations, including a number of orphan mutations. The number of cancer genes has constantly been on the rise as a consequence of technological evolution. Starting from a couple of dozen founder genes, we are presently facing lists comprising several hundreds of genes. These correspond to genes affected by structural rearrangements or mutations, those modified at the epigenetic level and, more recently, miRNAs. The current challenge resulting from this brutal increase will be to sort out founder from passenger mutations and deduce the oncogenic cascades that correspond to each tumor phenotype.
Insights
Cancer development involves somatic mutations and genome rearrangements. Identifying driver mutations among hundreds of cancer genes is crucial for understanding tumor phenotypes.
Area of Science:
- Genomics
- Cancer Biology
- Molecular Oncology
Context:
- Cancer development was initially understood through somatic mutations in oncogenes and tumor suppressors.
- Cancer cell genomes exhibit significant rearrangements impacting cellular organization and function.
- Technological advancements have led to the identification of numerous cancer-associated genes, including those affected by structural variations, mutations, epigenetic modifications, and miRNAs.
Purpose:
- To address the challenge of distinguishing driver mutations from passenger mutations in cancer.
- To elucidate the oncogenic signaling cascades underlying diverse tumor phenotypes.
Summary:
- The understanding of cancer has evolved from a simple model of somatic mutations to recognizing complex genomic rearrangements.
- The continuous discovery of hundreds of cancer genes, including epigenetic alterations and miRNAs, presents a significant challenge.
- Differentiating critical driver mutations from inconsequential passenger mutations is essential for deciphering cancer's molecular basis.
Impact:
- Facilitates a deeper understanding of cancer at the molecular level.
- Aids in the development of targeted cancer therapies by identifying key oncogenic drivers.
- Provides a framework for classifying tumors based on their underlying genetic and epigenetic profiles.
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