SALSA MLPA P315 EGFR probemix - 100 reactions

SALSA MLPA P315 EGFR probemix - 100 reactions

Tumours, solid.

region: EGFR 7p11 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P315-100R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P315 EGFR probemix - 100 reactions

P315-025R SALSA MLPA P315 EGFR probemix – 100 rxn

description
The epidermal growth factor receptor (EGFR) is cell surface tyrosine kinase (TK) enzyme involved in controlling cell growth. Following binding of a ligand, EGFR stimulation leads to activation of downstream events including cell proliferation, differentiation, survival and DNA synthesis. EGFR is involved in the development of many cancers and undergoes various types of alterations to gain oncogenic properties. Moreover, patients with tumours that have alterations in EGFR tend to have a more aggressive form of the disease and expression levels of EGFR are highly predictive of clinical outcome for patients with many types of tumours.
The mechanisms for oncogenic conversion of EGFR in cancer include amplified copy number, structural rearrangements of the gene, and activating mutations that have all been detected in various malignancies. One of the most common deletions detected in tumours is the EGFR deletion variant III (EGFRvIII), which contains an in-frame deletion of exons 2-7 from the extracellular domain of EGFR. In addition numerous other (exon) deletions and duplications are found in biopsies. EGFR mutations cluster in the kinase domain of EGFR (exons 18-21), and cause ligand-independent activation of the receptor, representing possible targets for therapeutic intervention. In this regard, somatic EGFR mutations as well as gene amplification in patients with non-small cell lung cancer (NSCLC) highly correlate with the clinical response to TK inhibitors. Two frequent mutations, L858R and T790M, are shown to be an important source of resistance to drugs acting on the TK domain of EGFR.

The EGFR gene comprises 28 exons, spans about 188 kb of genomic DNA and is located at chromosome 7p11.2 (55 Mb from p-telomere). This P315-B1 EGFR probemix contains 30 probes in the exons of EGFR gene, including one specific probe for the L858R and one for the T790M mutation, which are involved in drug resistance. Note that other mutations in EGFR are described as well, which will not be detected by this MLPA probemix. Furthermore, it contains 12 reference probes, which are locating in ‘silent’ regions that are not frequently altered by copy number in most cancer types. However, please note that some of these reference probes might be deleted/amplified in a certain tumour type.

SD006 Sample DNA: Please note that the mutation-specific probes have only been tested on control plasmids and not on positive human DNA samples with the L858R and the T790M mutation! This SD006 sample DNA is provided with each probemix vial and can be used in data binning in the fragment analysis and as a positive control for the mutation-specific probes (see next page).

This SALSA® MLPA® probemix is designed to detect deletions/duplications and mutation of one or more sequences in the aforementioned gene. Heterozygous deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® probemix.

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