Table 2.
Comprehensive list of the most frequent mutated genes (grouped by different cellular processes) in PDACs across various datasets. The table also provides clinical and pathological informations.
| GENOMIC STUDIES | |||||
|---|---|---|---|---|---|
| PAPERS | Jones S et al. [9] | Waddell N et al. [10] | TCGA [11] | Connor AA et al. [33] | |
| Patients/Samples | Patients = 24 | Patients = 100 | Patients = 150 | Patients = 289 | |
| Samples = 24 | Samples = 100 | Samples = 149 | Samples = 319 | ||
| Stage | Advanced (ranging IIB–IV) | Early to Advanced (ranging IA to IV) | Early to Advanced (ranging I to IV) | Early to Advanced (ranging I to IV) | |
| Histology | PDAC | PDAC | PDAC | PDAC | |
| Grading | NR |
G1: 2%
G2: 57% G3: 33% NR: 7% |
G1: 3%
G2: 50% G3: 47% |
NR | |
| Microdissection | No | No | No | Yes | |
| Mutated Genes | FREQUENCIES (%) | ||||
| RAS-MAPK Pathway | KRAS | 100% | 95% | 93% * | 89% |
| BRAF | NR | 1% | 3% * | 3% | |
|
TGF-Beta
Pathway |
SMAD4 | 33% | 31% * | 32% * | 25% |
| TGFBR2 | 13% | 8% | 5% * | 3% | |
| DNA Damage Response | CDKN2A | 8% | 35% * | 30% * | 26% |
| TP53 | 75% | 74% * | 72% * | 80% | |
|
Chromatin
Remodeling |
KDM6A | NR | 7% | 3% * | 5% |
| MLL3 | 17% | 13% | 4% * | NR | |
| ARID1A | 8% | 16% | 6% * | 9% | |
| DNA Repair | ATM | 0% | 3% | 5% * | NR |
| BRCA1 | NR | 4% | 1% * | NR | |
| BRCA2 | NR | 3% | 4% * | NR | |
| PALB2 | NR | 1% | 1% * | NR | |
|
Axon
Guidance Pathway |
ROBO2 | 0% | 3% | NR | NR |
| SLIT2 | 0% | 4% | NR | NR | |
| SEMA5A | 0% | 1% | NR | NR | |
| SEMA5B | 8% | 1% | NR | NR | |
| Pancreatic Differentiation | GATA6 | NR | 3% | 9% * | NR |
| RNA Processing | SF3B1 | 8% | 4% | NR | NR |
| WNT Signaling | RNF43 | NR | 8% | 7% * | 5% |
* These data refers to deleterious point mutations plus structural variation (amplifications/deletions). NR = not reported.