Our FGFR break apart probe is designed to detect FGFR1 translocations. The probe comes labeled in orange and green, but can be customized to meet your needs. 

Gene Background: FGFR1 translocations are hallmarks of 8p11 myeloproliferative syndrome (EMS), also known as stem cell leukemia/lymphoma syndrome, an aggressive stem cell myeloproliferative neoplasm associated with eosinophilia, T-cell lymphoma, and frequent progression to acute myeloid leukemia.1 T(8;13)(p11.2;q12.1) is the most common rearrangement in EMS, resulting in fusion of FGFR1 to ZMYM2 (a.k.a. ZNF198).2 Other FGFR1 rearrangements are also prevalent in EMS, and all generate fusion proteins composed of the tyrosine kinase domain of FGFR1 and a dimerization domain of a partner protein, leading to constitutively activated kinase activity.3

FGFR1 Break Apart FISH Probe Ideogram

** This product is for in vitro and research use only. This product is not intended for diagnostic use.

Gene Summary

The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

Gene Details

Gene Symbol: FGFR1

Gene Name: Fibroblast Growth Factor Receptor 1

Chromosome: CHR8: 38268655-38326352

Locus: 8p11.23

References

FGFR1 and HER1 or HER2 co-amplification in breast cancer indicate poor prognosis

HER1, HER2, and FGFR1 are important in the progression of breast cancer. The copy number variation of HER1/2 and FGFR1 in invasive ductal breast cancer (IDC) were under study. Various FISH tests were performed including one with our FGFR1 probe. It was concluded that those with co-amplification of FGFR1 and HER1/2 faced a less favorable prognosis than those with single or no amplification of these genes.

LobSig is a multigene predictor of outcome in invasive lobular carcinoma

Invasive lobular carcinoma (ILC) is a type of breast cancer defined by functional loss of E-cadherin, which results in cellular adhesion defects. This study sought to further characterize ILC’s genetic profile via analysis of 196 tumors. Using in silico integrative analyses, a 194-gene set – named ‘LobSig’ by the team – was identified, made up of genes frequently mutated in the tumor samples. LobSig was tested against the Nottingham Prognostic Index, PAM50 risk-of-recurrence (Prosigna), OncotypeDx, and Genomic Grade Index (MapQuantDx) for a 10-year follow-up period, and outperformed them all. As part of genetic profiling, Empire Genomics’ FGFR1 And CCND1 FISH probes were used to detect amplification of the genes.