General information
The SALSA MLPA Probemix P451 Chromosome 16 is a
research use only (RUO) assay for the detection of deletions or duplications on chromosome 16, which are associated with several tumour types, including breast cancer, Wilms’ tumour and multiple myeloma.
Low-grade breast neoplasias are molecularly characterized by a loss of chromosome arm 16q (De Boer et al. 2018; Rakha et al. 2006). Deletions of 16q arm are amongst the most frequent genetic events in breast cancer, especially in low grade ductal carcinoma, and loss of 16q seems to be associated with better prognosis. Since a loss of chromosome 16q has also been detected in premalignant lesions, this loss is likely to encompass an early step in carcinogenesis (De Boer et al. 2018). Loss of 16q is associated with poor prognosis in multiple myeloma (Jenner et al. 2006) and loss of heterozygosity for 16q is a prognostic factor identifying a high risk of relapse and death in Wilms’ tumour (Grundy et al. 2005).
Probemix content
The SALSA MLPA Probemix P451-B1 Chromosome 16 contains 50 MLPA probes with amplification products between 130 and 500 nucleotides (nt). This includes 36 probe(s) for chromosome 16, targeting 35 genes. In addition, 14 reference probes are included that target relatively copy number stable regions in various cancer types, including breast cancer. Probe sequences and the identity of the genes detected by the reference probes are available in Table 3 of the product description and online (
www.mrcholland.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 (see table below). More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at
www.mrcholland.com.