Gene fusions, or translocations, resulting from chromosomal rearrangements are the most common mutation class. They lead to chimeric transcripts or to deregulation of genes through juxtapositioning of novel promoter or enhancer regions.
Gene fusions are manually curated from peer reviewed publications by expert COSMIC curators. A comprehensive literature curation is completed for each fusion pair when it is released in the database. Currently COSMIC includes information on fusions involved in solid tumours. Annotation of fusions associated with leukaemias and lymphomas will be added.
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