Figure 1
Figure 2 A B C D E F
INDEPENDENT VALIDATION Figure 3 DISCOVERY & TECHNICAL VALIDATION COLONOMICS SET (n = 98 T-N) 42 paired T-N INDEPENDENT VALIDATION (n = 553 tumors) 56 paired T-N (n = 239 tumors –T- and 100 normal –N-) TCGA- discovery SET Exome sequencing Gene expression, CNV and methylation TCGA-validation SET (n = 87 paired T-N) Sanger sequencing EXTENSION SET (n = 171 T)
Figure 4 A B
Figure 5 50,7% 22,1% 9,6% 6,8% 3,7% 2,2% 2% 1,3% 0,5% 0,3% 0,2% 0,03%
Figure 6 TCGA Tamborero et al. Yu et al. Colonomics APC TP53 KRAS FAT4 SMAD4 SYNE1 PIK3CA CTNNB1 ARID1A ATM FBXW7 DMD AHNAK2 FBN2 ZFHX3 TTN AMER1 LRP2 RYR3 MUC16 PXDNL RYR2 THSD7B CSMD1 LRP1B PCDH10 TCF7L2 NRAS GRIK3 SMAD2 KIAA1804 ACVR1B GPC6 EDNRB SOX9 WBSCR17 SDK1 C8B PCDHA13 ABCA12 CACNG7 TPO CCBP2 CASP14 CDH10 DOCK2 TCGA Tamborero et al. Yu et al. Colonomics Mejor poner nombres de genes
Figure 7 A B C TCGA-discovery R497* R497* R631* R626* Tumor Normal 4105 4744 Tumor Normal C R626* R497* R631* R631* R631* FALTAN Tumor Normal 7
Figure 8 LRR ¿se tendría que poner el normal al lado? 8
Figure 9
Figure 10 AMER1 wild type AMER1 R626* AMER1 R497* A B C N N N T T T
Figure 11 ¿se tendría que poner el normal al lado? 11
Figure 12 A B ¿se tendría que poner el normal al lado? 12
Figure 13 ¿se tendría que poner el normal al lado? 13
Figure 14 AMER1 Clusters Proliferation EMT NOTCH / VEGFR2 P-value = 0.575 P-value = 0.464 P-value = 0.003 P-value = 3.36*10-5 EMT P-value = 0.057 P-value = 0.796 P-value = 7.75*10-10 P-value = 3.25*10-8 ¿se tendría que poner el normal al lado? NOTCH / VEGFR2 P-value = 0.050 P-value = 0.201 P-value = 1.37*10-9 P-value = 1.69*10-5 14
Figure 15