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Updated: May 26, 2026

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
[Chromosomal rearrangements and fusion genes in carcinoma]
Christophe Massard1, Nathalie Auger, Ludovic Lacroix
1Institut Gustave-Roussy, département de médecine, Villejuif, France. christophe.massard@igr.fr
Abstract:
In the last decades, rarity of chromosomal rearrangements and fusion genes detected in epithelial cancers in using classical karyotyping led to consider these genomic events as specifically restricted to haematological neoplasia and mesenchymal tumors. Today, gene positioning as well as bio-informatics approaches has enabled identifying in carcinoma various fusion genes subsequent to chromosomal translocations, inversions, or deletions. Thus, gene fusion formation appears as a common mechanism in oncology that concerns most of human cancers, independent of original tissue lineage. At a clinical point of view, applications of fusion genes in terms of diagnosis, prognosis and therapeutics can be envisioned. This review will present current knowledge about fusion genes in common carcinoma (prostate, breast, colon). Following a structural and functional description of various fusion genes so far found in human malignant solid tumors, as well as techniques used for their detection, the review will integrate fusion genes in epithelia oncogenesis general scheme. Finally, promising clinical issues of fusion genes will be surveyed.
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