Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P376 BRCA1ness probemix - 50 reactions

SALSA MLPA P376 BRCA1ness probemix - 50 reactions

application: BRCA1-like breast cancer profile
region: various Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P376-050R

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

Detailní popis SALSA MLPA P376 BRCA1ness probemix - 50 reactions

P376-025R SALSA MLPA P376 BRCA1ness probemix – 50 rxn

Note: The classification of breast cancer patient samples using the PAM algorithm in R code with this SALSA® MLPA® probemix requires bioinformatics and R-programming skills, especially for the set up phase!

BRCA1 and BRCA2 are involved in homologous recombination, the double-stranded DNA repair mechanism, which plays an important role in maintaining the stability of the human genome. For individuals carrying germ-line mutations in these genes, this process is impaired. This is known as homologous recombination deficiency (HRD). Cells with HRD are more sensitive to DNA crosslinking agents, such as alkylators and platinum drugs (Kennedy RD et al. 2004, J Natl Cancer Inst. 96:1659-68), which are used as chemotherapy.

BRCA1 and BRCA2 can be inactivated in sporadic cancers as well, which is referred to BRCAness (Turner NC et al. 2004, Nat Rev Cancer; 4:814-9). In BRCA1 mutation carriers, breast tumour samples have a characteristic pattern of DNA gains and losses (Wessels LF et al., 2002, Cancer Res. 62:7110-7117). An array CGH based classifier recognising this genomic pattern of BRCA1-mutated breast tumours was developed and it was shown that this classifier could identify hereditary breast tumours, for which no mutation was identified (Joosse SA et al., 2009, Breast Cancer Res Treat. 116:479-489). BRCA1ness profile is present in about half of all triple negative sporadic breast cancers and is predictive for benefit from intensified chemotherapy (Lips E et al. 2011, Ann Oncol. 22:870-6; Vollebergh MA et al. 2011, Ann Oncol. 22:1561-70). Regarding the most important classifiers, the following regions have been found gained in previous studies: 3q22-29, 6p21-22, 10p14, 12p13, 13q31-34; and following regions have been found lost in previous studies: 3p21, 5q12-23, PTEN region (10q23), 12q21-23, 14q22-24 and 15q15-21 (Joose SA et al. 2009, Breast Cancer Res Treat. 116:479-89; Lips E et al. 2011, Breast Cancer Res. 13:R107). The P376 BRCA1ness probemix covers these regions. Additionally, two probes targeting BRCA1 and two probes targeting BRCA2 are included in the mix. As shown in a large collaborative study (Lips E et al. 2011, Breast Cancer Res. 13:R107), this probemix recognises both BRCA1-mutated and sporadic tumours with BRCA1-like genomic profile.

This probemix contains two probes for the BRCA1 gene, two probes for the BRCA2 gene and 34 probes for 11 different chromosomal regions that are suggested to be clinically relevant in prediction for BRCA1-association and for PARP inhibitors benefit. In addition, 10 reference probes have been included in this probemix, detecting 6 different autosomal chromosomal locations, which are relatively quiet in breast cancer genome and which have been validated in a large collaborative study (Lips E et al. 2011, Breast Cancer Res. 13:R107). However, it should be noticed that breast cancer karyotypes can harbour multiple numerical and structural aberrations, which can complicate interpretation of these reference probes.

This SALSA® MLPA® probemix is designed to detect amplifications and deletions of one or more sequences in the above mentioned genes and chromosomal regions. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Note that a mutation or polymorphism (e.g. SNP) 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, single probe deletions or duplications detected by MLPA should always be confirmed by other methods or by MLPA probemixes with higher resolution in the gene or chromosomal area of interest. Users should always verify the latest scientific literature when interpreting their findings.

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