Table 1.
Summary of tumor genomic profiling by FoundationOne assay
| Functional genomic alterations (date of specimen) | A: primary axillary tumor (11/19/2013) | B: recurrent axillary tumor (1/8/2015) | C: recurrent lung tumor (2/10/2015) | D: progressive lung tumor (9/29/2015) |
|---|---|---|---|---|
| Mutation allele frequency (MAF) (%) | ||||
| TERT promoter -146C>T | 6% | 22% | 35% | 47% |
| PIK3CA Q661K | 7% | 24% | 18% | 23% |
| ARID2 R542a | 6% | 22% | 27% | 30% |
| CDC73 G28a | 9% | |||
| CDKN2A A100V | 11% | 40% | 48% | 47% |
| CDKN2A R58a | 12% | 39% | 46% | 49% |
| FANCC E539K | 8% | 21% | 28% | 29% |
| FAT1 N126fsa20 | 3% | 22% | 24% | 24% |
| NOTCH1 splice site 5639-1G>A | 18% | 35% | 40% | 35% |
| PTCH1 P253L | 3% | 9% | 15% | 13% |
| SMAD4 Q180a | 11% | 25% | 36% | 37% |
| SPEN S346F | 10% | 26% | 17% | 16% |
| TP53 Q317a | 2% | 9% | 10% | 14% |
| TP53 Y163H | 14% | 37% | 47% | 44% |
| Number of functional genomic alterations | 13 | 14 | 13 | 13 |
| TMB (mut/Mb) | 70.3 | 91.0 | 87.4 | 82.9 |
| TMB percentile in lung SCC | 98.8% | 99.1% | 99.1% | 99.0% |
aTruncated gene
fs frame shift, mut/Mb mutations per megabase