Table 2.
Disease associated somatic mutations in intestinal polyps from patients on BRAF inhibitors
| Patient | Sample | Gene | Mutation (AA Change) |
Allele Freq. (%) |
Total Coverage (fold) |
|---|---|---|---|---|---|
| Colonic Polyps | |||||
| MSKCC1 | Pooled TA |
APC APC |
P1441A T1448S |
15 30 |
473 518 |
| UPENN1 | Pooled TA |
CTNNB1 APC |
S45F G1106X |
49 8 |
6118 3905 |
| UPENN1 | Large TA | APC APC |
G1106X Q1338X |
27 29 |
4379 23882 |
| UPENN2 | Pooled TA |
TP53 TP53 TP53 APC |
R181H Y234C R175H 1450X |
5 4 5 30 |
1166 4463 4523 2485 |
| UPENN2 | Large TA | APC | 1450X | 41 | 2275 |
| VAN1 | Pooled TA |
CTNNB1 APC APC |
S45P P1441A P1422T |
54 9 25 |
1529 679 673 |
| VAN1 | Pooled TA | APC | P1450X | 16 | 11170 |
| VAN2 | Pooled TA | APC | Q1477X | 10 | 14079 |
| Gastric polyps | |||||
| UPENN1 | Gastric Polyp |
None | |||
| UPENN1 | Gastric Polyp |
None | |||
| UPENN1 | Gastric Polyp |
KRAS | G13C | 2 | 1480 |
| UPENN1 | Gastric Polyp |
None | |||
UPENN: University of Pennsylvania; MSKCC: Memorial Sloan Kettering Cancer Center; VAN: Vanderbilt-Ingram Cancer Center; TA: Tubular adenoma; AA: amino acid;