Table 2.
Gene | Gene type* | Alteration type | # Samples altered | WES | WGS | SNP array | RNA-Seq |
---|---|---|---|---|---|---|---|
KRAS | OG | Mut | 7 | 7 (100 %) | 7 (100 %) | 0 (0 %) | 7 (100 %) |
TP53 | TSG | Mut | 7 | 7 (100 %) | 7 (100 %) | 0 (0 %) | 7 (100 %) |
HD | 0 | na | na | na | na | ||
CDKN2A/p16 | TSG | Mut | 3 | 3 (100 %) | 3 (100 %) | 0 (0 %) | 3 (100 %) |
HD | 4 | 4 (100 %) | 4** (100 %) | 4 (100 %) | 4 (100 %) | ||
SMAD4/DPC4 | TSG | Mut | 2 | 2 (100 %) | 2 (100 %) | 0 (0 %) | 2 (100 %) |
HD | 4 | 4 (100 %) | 4 (100 %) | 4 (100 %) | 4 (100 %) |
OG oncogene, TSG tumor suppressor gene, MUT mutation (includes frameshifting indels and point mutations), HD homozygous deletion, WES whole exome sequencing, WGS whole genome sequencing
1 p16 mutation was not reported as an alteration by the standard Illumina pipeline, but visualization of the bam file clearly showed a homozygous deletion