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SALSA MLPA Probemix P489 BARD1

Breast and ovarian cancer, hereditary

Region: BARD1 2q35

General information: The 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).

Probemix content: The SALSA MLPA Probemix P489-A1 BARD1 contains 25 MLPA probes with amplification products between 138 and 346 nucleotides (nt). This includes 13 probes for the BARD1 gene, including at least one probe for every exon. Moreover, two probes upstream of the BARD1 gene are included. In addition, ten reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mlpa.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P489-025R
SALSA MLPA Probemix P489 BARD1 – 25 rxn
€ 243.00
P489-050R
SALSA MLPA Probemix P489 BARD1 – 50 rxn
€ 486.00
P489-100R
SALSA MLPA Probemix P489 BARD1 – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

Related Products

SALSA MLPA Probemix P002 BRCA1

Contains probes for BRCA1, involved in breast and ovarian cancer.

SALSA MLPA Probemix P041 ATM-1

Contain probes for ATM, involved in breast cancer and Ataxia Telangiectasia.

SALSA MLPA Probemix P042 ATM-2

Contain probes for ATM, involved in breast cancer and Ataxia Telangiectasia.

SALSA MLPA Probemix P045 BRCA2/CHEK2

Contains probes for BRCA2 and CHEK2, involved in breast and ovarian cancer.

SALSA MLPA Probemix P056 TP53

Contains probes for TP53, involved in Li-Fraumeni syndrome.

SALSA MLPA Probemix P077 BRCA2 Confirmation

Contains probes for BRCA2, as confirmation of the P090/P045 probemixes.

SALSA MLPA Probemix P087 BRCA1 Confirmation

Contains probes for BRCA1, as confirmation of the P002 probemix.

SALSA MLPA Probemix P090 BRCA2

Contains probes for BRCA2, involved in breast and ovarian cancer.

SALSA MLPA Probemix P260 PALB2-RAD50-RAD51C-RAD51D

Contains probes for PALB2, RAD50, RAD51C and RAD51D, involved in breast and ovarian cancer.

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