Table 1.
Contents of the “breast cancer” MLPA kit P078-B1 (MRC Holland)
| Gene | Chrom | Gain (%) | Amp (%) | Loss (%) | Function and clinical relevance |
|---|---|---|---|---|---|
| ESR1 | 06q25.1 | 6 | 0 | 3 | Transcription factor; under debate [40–42] |
| EGFR | 07p11.2 | 22 | 1 | 0 | Signal transduction; poor survival [4] |
| FGFR1 | 08p11.23 | 29 | 13 | 0 | Signal transduction; poor survival, tamoxifen resistance [5] |
| ADAM9 | 08p11.23 | 39 | 11 | 1 | Protein metabolism; promotes invasion [38] |
| IKBKB | 08p11.21 | 32 | 6 | 0 | Signal transduction [43] |
| PRDM14 | 08q13.3 | 32 | 9 | 0 | Transcription regulatory protein; chemoresistance [44] |
| MTDH | 08q22.1 | 49 | 12 | 0 | Signal transduction; promoting metastases, chemoresistance, poor survival [36] |
| MYC | 08q24.21 | 36 | 10 | 0 | Transcription factor; poor survival [3] |
| CCND1 | 11q13.2 | 46 | 18 | 1 | Signal transduction; ER positivity, poor survival [35] |
| EMSY | 11q13.5 | 10 | 2 | 3 | Transcription regulatory protein; poor survival [45] |
| CDH1 | 16q22.1 | 6 | 0 | 9 | Cell adhesion [46] |
| TRAF4 | 17q11.2 | 41 | 4 | 0 | Signal transduction [47] |
| CPD | 17q11.2 | 9 | 0 | 0 | Protein metabolism [48] |
| MED1 | 17q21.2 | 23 | 4 | 0 | Transcriptional coactivator; ER positivity [49] |
| HER2 | 17q12 | 17 | 4 | 0 | Signal transduction; bad survival; trastuzumab response [2] |
| CDC6 | 17q21.2 | 41 | 4 | 0 | Signal transduction [50] |
| TOP2A | 17q21.2 | 26 | 2 | 0 | Regulation of the topological status of DNA; poor survival, susceptible for certain chemotherapy [6] |
| MAPT | 17q21.31 | 16 | 0 | 0 | Microtubule stabilization; chemoresistance (taxanes) [51] |
| BIRC5 | 17q25.3 | 27 | 2 | 0 | Signal transduction; predict distant recurrence [52] |
| CCNE1 | 19q12 | 2 | 0 | 1 | Signal transduction; poor survival [53] |
| AURKA | 20q13.31 | 10 | 4 | 12 | Signal transduction [54] |
For each gene, chromosome location (Chrom), gene copy number gain (Gain; >1.3), amplification (Amp; >2.0), gene loss (Loss; <0.7), function and clinical relevance (in female breast cancer) are shown