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Updated: Apr 18, 2026

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Detecting and targetting oncogenic fusion proteins in the genomic era
Monika A Davare1, Cristina E Tognon
1Knight Cancer Institute, Oregon Health & Science University, Portland, OR, 97239, U.S.A; Department of Pediatrics, Oregon Health & Science University, Portland, OR, 97239, U.S.A.
Abstract:
The advent of widespread cancer genome sequencing has accelerated our understanding of the molecular aberrations underlying malignant disease at an unprecedented rate. Coupling the large number of bioinformatic methods developed to locate genomic breakpoints with increased sequence read length and a deeper understanding of coding region function has enabled rapid identification of novel actionable oncogenic fusion genes. Using examples of kinase fusions found in liquid and solid tumours, this review highlights major concepts that have arisen in our understanding of cancer pathogenesis through the study of fusion proteins. We provide an overview of recently developed methods to identify potential fusion proteins from next-generation sequencing data, describe the validation of their oncogenic potential and discuss the role of targetted therapies in treating cancers driven by fusion oncoproteins.
Insights
Cancer genome sequencing rapidly identifies oncogenic fusion genes. Studying these fusion proteins enhances understanding of cancer development and guides targeted therapy for fusion-driven cancers.
Area of Science:
- Oncology
- Genomics
- Bioinformatics
Background:
- Widespread cancer genome sequencing accelerates understanding of molecular aberrations in cancer.
- Bioinformatic methods and advancements in sequencing technology enable rapid identification of oncogenic fusion genes.
Purpose of the Study:
- To review major concepts in cancer pathogenesis derived from studying fusion proteins.
- To provide an overview of methods for identifying fusion proteins from next-generation sequencing (NGS) data.
- To discuss the validation of oncogenic potential and targeted therapies for fusion-driven cancers.
Main Methods:
- Review of literature on kinase fusions in liquid and solid tumors.
- Overview of bioinformatics tools for fusion gene identification from NGS data.
- Discussion of methods for validating oncogenic potential and therapeutic strategies.
Main Results:
- Fusion proteins, particularly kinase fusions, are key drivers in various cancers.
- Advances in sequencing and bioinformatics have significantly improved the detection of fusion genes.
- Targeted therapies show promise in treating cancers driven by specific fusion oncoproteins.
Conclusions:
- The study of fusion proteins has significantly advanced our understanding of cancer pathogenesis.
- Effective identification and validation methods are crucial for clinical application.
- Targeted therapies represent a promising avenue for treating fusion-driven malignancies.
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