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P489 BARD1

SALSA MLPA Probemix P489 BARD1 detects copy number variations in the BARD1 gene.

Specifications

Contents: 25 MLPA probes, including 13 probes for BARD1 (covering all exons).

Tissue: human genomic DNA.

Application: research on hereditary breast and ovarian cancer (HBOC), and neuroblastoma.

For research use only (RUO). Not for use in diagnostics.

General information

SALSA MLPA Probemix P489 BARD1 is a research use only (RUO) assay for the detection of deletions or duplications in the BARD1 gene, which is associated with hereditary breast and ovarian cancer, as well as neuroblastoma.

The BARD1 (BRCA1 associated RING domain 1) gene is transcribed from chromosome 2q35 and functions as tumour suppressor by playing an essential role in BRCA1-mediated double-strand DNA repair. BARD1 shares homology with the two most conserved regions of the cancer susceptibility gene BRCA1. Both BARD1 and BRCA1 harbour two BRCA1 C-terminal repeats (BRCT) and an N-terminal RING motif (Tarsounas et al. 2020). Heterodimerization of de RING motives of both proteins is essential for the E3 ubiquitin ligase activity of the BRCA1-BARD1 complex. Moreover, the BRCA1-BARD1 heterodimer facilitates DNA repair via the homologous recombination pathway by interacting with DNA repair proteins such as BRCA2 and RAD51.

Autosomal dominant mutations in the genes BRCA1 and BRCA2 are the most frequent cause for familial breast cancer. Other breast cancer susceptibility genes include PALB2, CHEK2, ATM, and BARD1. While most pathogenic variants of BARD1 are caused by small point mutations, copy number variations have also been reported (Sabatier et al. 2010). Moreover, copy number variations of BARD1 have been related to congenital conditions such as hypospadias and congenital heart defects as well as developmental delay (Cimmino et al. 2017).

Regulatory status

SALSA MLPA Probemix P489 BARD1 is for research use only (RUO) in all territories.

List prices

Product

Item no.
Description
Technology
Price
P489-025R
SALSA MLPA Probemix P489 BARD1 – 25 rxn
€ 286.00
P489-050R
SALSA MLPA Probemix P489 BARD1 – 50 rxn
€ 560.00
P489-100R
SALSA MLPA Probemix P489 BARD1 – 100 rxn
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
€ 348.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
€ 1600.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
€ 6152.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

We have no information about specific commercially available positive samples that can be used with this product.

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