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FGFR1 Breakapart/Amplification

Catalogue Numbers
LPS 018-S (5 tests)
LPS 018 (10 tests)

Probe Specification

  • FGFR1, 8p11.23-p11.22, Red
  • FGFR1, 8p11.23-p11.22, Green
  • D8Z2, 8p11.1-q11.1, Blue

The FGFR1 Breakapart/Amplification probe consists of a green 272kb probe and a red 267kb probe, which are positioned on each side of the FGFR1 gene. The 8-centromere probe in blue acts as a control for chromosome 8.

Probe Information

Fibroblast Growth Factor Receptor 1 (FGFR1), located on chromosome 8, was the first gene to be shown to be amplified in some breast cancers1 and is also translocated in some patients with 8p11 myeloproliferative syndrome2.

Amplification of the gene is thought to be the causative factor in around 10% of breast tumours3 and has been shown to provide a poor prognosis to patients as over-expression of the gene product can lead to early relapse4.

In common with other genetic defects in lymphoproliferative disorders, like the BCR/ABL translocation in CML, the FGFR1 gene contains sequences that could code for a putative tyrosine kinase protein5,6, which has been implicated in myeloproliferative syndrome (also known as EMS or Stem cell leukaemia/lymphoma syndrome, SCLL), marking out the importance of this gene in both solid tumours and cancers of the blood. There are at least eight partner genes involved with FGFR1 translocations, including ZNF198 (the most common7), FOP, CEP110, BCR, HERV-K, FGFR10P2, TIF1 and MYO18A8.

Cytocell has developed a three-colour combined breakapart and amplification FISH probe for FGFR1 that can be used in either bone marrow samples from myeloproliferative syndrome (EMS) patients or tissue sections from patients where gene amplification may be suspected. In EMS, the breakapart strategy will show the split of one of the two fusion signals along with a blue centromere to enumerate chromosome 8. In patients that are being tested for amplifications of FGFR1, the non-translocated FGFR1 FISH probe will appear as a fusion signal and this will appear amplified. The chromosome 8 centromere probe will also act as a control probe in these cases.

It was very important for us to have more consistent results with our probes — easy-to-read bright signals and a range of vial sizes, which is much more cost-effective. It also was critical to upgrade our pretreatment kit to expedite the analysis of FFPE samples. We can now complete the process in about 90 minutes. Janet M. Cowan, PhD, Director of the Cytogenetics Laboratory at Tufts Medical Center


1. Theillet et al., Genes Chromosomes Cancer 1993;7:219-26

2. Macdonald et al., Leukemia 1995;9:1628-30

3. Courjal F et al., Cancer Res 1997;57(19):4360-7

4. Turner N et al., Cancer Res 2010;70(5):2085-94

5. Ruta M et al., Oncogene 1988;3:9-15

6. Smedley et al., Hum Mol Genet 1998;7(4):637-42

7. Xiao et al., Nature Genet 1998;18:84-7

8. Huret JL. FGFR1 (Fibroblast Growth Factor Receptor 1). Atlas Genet Cytogenet Oncol Haematol. December 2008

Microscope Images

FGFR1 Breakapart Amplification magnified
Area of Interest*
Breast Cancer, Lung Cancer


This product is intended to be used on formalin-fixed paraffin-embedded (FFPE) tissues.

*Disease information supported by the literature and is not a reflection of the intended purpose of this product.