Table 1. Detection of exon-skipping mutants by PAC.
Tumor sample | Gene | Mutation | mRNA | PAC detection |
OCUB-F | CDH1 | c.49_163del | r.49_163del115 (Ex2) | detected |
MDA-MB-134VI | CDH1 | c.688_832del | r.688_832del145 (Ex6) | detected |
MPE600 | CDH1 | c.1138_1320del | r.1138_1320del183 (Ex9) | detected |
CAMA-1 | CDH1 | c.1712-1G>A | r.1566_1712del147 (Ex11) | detected |
MDA-MB-468 | PTEN | c.253+1G>T | r.210_253del44 (Ex4) | detected |
MDA-MB-453 | p53 | c.994_1182del | r.994_1182del189 (Ex10-11) | detected |
HCC1937 | RB1 | c.2212_2325del | r.2212_2325del114 (Ex22) | detected |
Glioblastoma 67 | EGFR | c.89_889del | r.89_889del801 (Ex2-7) | not detected |
Glioblastoma 96 | EGFR | c.89_889del | r.89_889del801 (Ex2-7) | detected |
Glioblastoma 142 | EGFR | c.89_889del | r.89_889del801 (Ex2-7) | detected |
Glioblastoma 149 | EGFR | c.89_889del | r.89_889del801 (Ex2-7) | not detected |
Glioblastoma 163 | EGFR | c.89_889del | r.89_889del801 (Ex2-7) | not detected |
Glioblastoma 164 | EGFR | c.89_889del | r.89_889del801 (Ex2-7) | not detected |
Stated are mutations that result in the expression of an aberrant transcript variant in breast cancer cell lines (top) and clinical glioblastoma samples (bottom). All mutations were determined by sequencing genomic DNA fragments as well as transcripts, where the cDNA sequence c.1 corresponds to the adenosine residue of the ATG initiation codon in the Genbank reference sequence. Genbank accession numbers: Z13009, NM_000314, NM_000546, NM_000321 and NM_005228.3 for CDH1, PTEN, p53, RB1 and EGFR, respectively. Detection of the mutations by PAC was at PAC value −1.3.