General information: The SALSA MLPA Probemix P078 Breast tumour is a research use only (RUO) assay for the detection of deletions or duplications in 6q25 (ESR1), 7p11 (EGFR), 8p12-p11 (ZNF703, FGFR1, ADAM9, IKBKB), 8q13-q24 (PRDM14, MTDH, MYC), 11q13 (CCND1, EMSY), 16q22 (CDH1), 17q11-q25 (ERBB2, TOP2A, MAPT, PPM1D, BIRC5), 19q12 (CCNE1) and 20q13 (AURKA), which are suggested to be of diagnostic/clinical importance in breast cancer. See Table 1 and Table 2a for detailed information about all included chromosomal regions and genes.

Probemix content: The SALSA MLPA Probemix P078-D2 Breast tumour contains 55 MLPA probes with amplification products between 127 and 500 nt. This includes in total 41 probes for the following chromosomal regions: 6q25 (ESR1), 7p11 (EGFR), 8p12-p11 (ZNF703, FGFR1, ADAM9, IKBKB), 8q13-q24 (PRDM14, MTDH, MYC), 11q13 (CCND1, EMSY), 16q22 (CDH1), 17q11-q25 (ERBB2, TOP2A, MAPT, PPM1D, BIRC5), 19q12 (CCNE1) and 20q13 (AURKA). In addition, 14 reference probes are included which target relatively copy number stable regions in various tumour types including breast cancer. The identity of the genes detected by the reference probes is available in Table 2b. Complete probe sequences are available online (www.mlpa.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 121 nucleotides (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.