Fgfr2 gene fusion software

The kit provides all the reagents necessary for the rapid and sensitive detection of eight fgfr gene fusions. Tumor heterogeneity and acquired drug resistance in fgfr2fusion. The varscan2 software was employed in above analyses because of their. Agfusion simply needs the reference genome, the two gene partners, and the fusion junction coordinates as input, and outputs the following. For instance, the bcrabl fusion gene mutation is critical in. Massive parallel sequencing uncovers actionable fgfr2pphln1 fusion and araf mutations in intrahepatic cholangiocarcinoma. Identification of a novel driver oncogene and applying it to targeted therapies for. Derazantinib arq 087 in advanced or inoperable fgfr2 gene. About installation part, most of them including soapfuse, were mixed bag of different tools and hence installation was a pain. The fgfr2 gene provides instructions for making a protein called fibroblast growth factor receptor 2 fgfr2. Identification of targetable fgfr gene fusions in diverse. Fgfr2clip1 fusion gene variant and the secondary fgfr2 mutation identified in the pa tient have also been deposited to clinvar s. A metabolic function of fgfr3tacc3 gene fusions in cancer. The fgfr fusions detected have persistently exhibited substantial dimerization domain contributions from the 3.

Agfusion is a python package for annotating gene fusions from the human or mouse genomes. Detection of known and novel fgfr fusions in nonsmall cell. Arid1a 23% bap1 20%, tp53 20% and fgfr2 gene fusions 14%. It can occur as a result of translocation, interstitial deletion, or chromosomal inversion. The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. Fibroblast growth factor receptor 2 fusions as a target. A fulllength representative protein consists of an extracellular region, composed of three immunoglobulinlike. Fgfr family members differ from one another in their ligand affinities and tissue distribution.

Arid1a 23 % bap1 20%, tp53 20% and fgfr2 gene fusions 14%. The slc45a3fgfr2 gene fusion identified in the index prostate cancer is quite interesting as its pathogenic role is likely through a mechanism that is distinct from fusion protein oligomerization shared by the. Created by chromosomal translocation, numerous fgfr2 fusion proteins have been identified. Interestingly, a variety of fgfr2 gene fusions have been recently identified in icca. Identification of targetable fgfr gene fusions in diverse cancers. Fgfr2 fibroblast growth factor receptor 2 gene gtr ncbi. The best supported top ranked fusion event was an interchromosomal fusion comprising a portion of the tyrosine kinase receptor fgfr2 with pphln1, a gene involved in epithelial differentiation. Gene fusions are an important class of driver mutations that play a vital role in certain cancer 34. Functions of fgfr2 corrupted by translocations in intrahepatic. Cooccurring alterations in the known nsclc driver genes egfr and mnng hos. Comprehensive molecular profiling of intrahepatic and extrahepatic. Fibroblast growth factor receptor 2 tyrosine kinase fusions define a. Tumor heterogeneity and acquired drug resistance in fgfr2.

A fusion gene is a hybrid gene formed from two previously independent genes. Recent studies that have identified fibroblast growth factor receptor 2 fgfr2 fusions, prognostic implications of fgfr2 fusions, treatment strategies that target fgfr2 in cca and future directions for understanding and targeting the fgfr2 pathway in this disease, will be discussed. The modaplex fgfr gene fusion analysis kit is a pcrbased multiplex assay for the qualitative detection of gene fusions in fgfr1, fgfr2, and fgfr3. Massive parallel sequencing uncovers actionable fgfr2. The identification of these fusion genes play a prominent role in being a diagnostic and prognostic marker. Fusioncatcher a tool for finding somatic fusion genes in. Fibroblast growth factor receptors are related proteins that are involved in important processes such as cell growth and division proliferation, cell maturation differentiation, formation of blood vessels angiogenesis, wound healing, and embryonic development. Fusion genes have been found to be prevalent in all main types of human neoplasia. Through a prospective clinical sequencing program for advanced cancers, four index cases were identified which harbor gene rearrangements of. The rise of the fgfr inhibitor in advanced biliary cancer. Recurrent gene fusions are an important class of driver mutation in cancer as exemplified by the bcrabl gene fusion which characterizes. Co occurring alterations in the known nsclc driver genes egfr and mnng hos. Box plot spans the first to third quartiles and whiskers show the 1.