What is FGFR fusion?
Chromosomal rearrangements leading to FGFR gene fusions have been also found to be involved in the pathogenesis of human cancer. Gene fusions are hybrid genes that originate from the chromosomal rearrangement of two genes, in the form of translocation, insertion, inversion, and deletion [4].
How common are FGFR mutations?
Overall, 5% of 4,853 patients had FGFR amplifications; 2% of patients had mutations; and 0.5% of patients had rearrangements.
How does gene fusion occur?
A fusion gene is a hybrid gene formed from two previously independent genes. It can occur as a result of translocation, interstitial deletion, or chromosomal inversion. Fusion genes have been found to be prevalent in all main types of human neoplasia.
What is FGFR blood test?
Genetics Test Information This test is an FDA-approved assay for the evaluation of somatic mutations and fusions in the FGFR3 and FGFR2 genes to identify urothelial carcinoma patients that may be eligible for treatment with FGFR-targeted therapies such as Balversa (erdafitinib).
Where is FGFR1 located?
The FGFR1 gene is located on human chromosome 8 at position p11. 23 (i.e. 8p11. 23), has 24 exons, and codes for a Precursor mRNA that is alternatively spliced at exons 8A or 8B thereby generating two mRNAs coding for two FGFR1 isoforms, FGFR1-IIIb (also termed FGFR1b) and FGFR1-IIIc (also termed FGFR1c), respectively.
How is gene fusion detected?
We detect gene fusions of transcripts within and across chromosomes. This detection is based on paired-end reads that are uniquely mapped to transcripts from different loci. The approach consists of four steps. These are: filtering, clustering, inclusion of splice-junction information and scoring.
When do gene fusions occur?
Gene fusions are hybrid genes formed when two previously independent genes become juxtaposed. The fusion can result from structural rearrangements like translocations and deletions, transcription read-through of neighboring genes (1–3), or the trans- and cis-splicing of pre-mRNAs (4–8) (Figure 1).
