Moreover, the recurrent amplification of Elf3 gene in CRC, together with the requirement Elf3 for maintaining the aggressive phenotypes of CRC cells, strongly suggest the oncogenic roles of Elf3 in CRC.
Recurrent amplification of SHH signature genes has clinical implications, as amplification of downstream transcriptional targets could mediate resistance to upstream SHH pathway inhibitors14.
b, c, Recurrent amplifications of PPM1D (b) and PIK3C2B/MDM4 (c) are restricted to SHH. d, Fluorescence in situ hybridization (FISH) validation of MDM4 amplification.
Paugh, B. S. et al. Genome-wide analyses identify recurrent amplifications of receptor tyrosine kinases and cell-cycle regulatory genes in diffuse intrinsic pontine glioma.
The other gene, CYP21B1, was called as the representative for a small region of recurrent amplification on chromosome 12.
For example, in GBM there is a well known recurrent amplification in 7 q and a deletion of almost the whole chromosome 10 [ 28]. Figure 2 shows the recurrent aberrations found using the median of the tumoral samples (MTS), shown in thick red and grey, the ones obtained from NSA (lines red and black) and MHS (green and dark green).
The novel region of recurrent amplification identified at 8q24.33 q24.23 formed the focus of our further investigations.
For a family wise error rate of 5% (with a 4 Mb kernel width), we selected 3,663 (12.3%) recurrent deletions and 2,524 (8.5%) recurrent amplification.
Using MTS, both a recurrent amplification and a recurrent deletion appear in chromosome 10.
High-level amplifications were present in 238 clones, of which about 37% of them showed recurrent amplification.
