The emerging complexity of gene fusions in cancer.

Summary, in English

Structural chromosome rearrangements may result in the exchange of coding or regulatory DNA sequences between genes. Many such gene fusions are strong driver mutations in neoplasia and have provided fundamental insights into the disease mechanisms that are involved in tumorigenesis. The close association between the type of gene fusion and the tumour phenotype makes gene fusions ideal for diagnostic purposes, enabling the subclassification of otherwise seemingly identical disease entities. In addition, many gene fusions add important information for risk stratification, and increasing numbers of chimeric proteins encoded by the gene fusions serve as specific targets for treatment, resulting in dramatically improved patient outcomes. In this Timeline article, we describe the spectrum of gene fusions in cancer and how the methods to identify them have evolved, and also discuss conceptual implications of current, sequencing-based approaches for detection.

• Author: Fredrik Mertens; Bertil Johansson; Thoas Fioretos; Felix Mitelman
• Department/s: The genetics of soft tissue tumors; Translational Genomic and Functional Studies of Leukemia; Division of Clinical Genetics; BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
• Publishing year: 2015
• Language: English
• Pages: 371-381
• Publication/Series: Nature Reviews. Cancer
• Volume: 15
• Issue: 6
• Links: http://www.ncbi.nlm.nih.gov/pubmed/25998716?dopt=Abstract; http://dx.doi.org/10.1038/nrc3947
• Document type: Journal article review
• Publisher: Nature Publishing Group
• Topic: Medical Genetics
• Status: Published
• Research group: The genetics of soft tissue tumors; Translational Genomic and Functional Studies of Leukemia
• ISBN/ISSN/Other: ISSN: 1474-1768