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.
(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
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
are the most frequent cause for familial breast cancer. Other breast cancer susceptibility genes include PALB2
, 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).
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