Table 1.
Tumor genomic next generation sequencing (NGS) study reveals mutations in several genes, including somatic mutations in genes mutated in the sebaceous carcinoma COSMIC dataset (in bold)
| Gene | Alteration | Subcellular localization | Pathway |
|---|---|---|---|
| LRP1B | G3156C, Q1125* | Plasma membrane | Receptor mediated endocytosis |
| CCND1 | S41L | Nucleus; cytosol | Cyclin D1, cell cycle |
| TET2 | P174H | Nucleoplasm | DNA demethylation |
| TP53 | rearrangement, del exon 10-11 | Nucleoplasm | DNA repair |
| FANCA | A816V, R685S | Nucleus | DNA repair |
| FGF6 | A63T | Extracellular | Growth factor |
| MYST3 | Q1681_Q1684del | Nucleolus; cytosol | Histone acetyltransferase (HAT) |
| KRAS | G12C | Cytosol | MAPK signalling |
| RBM10 | F173fs*7 | Nucleus | mRNA splicing |
| MET | amplification | Plasma membrane | Receptor tyrosine kinase |
| FGFR3 | I539del | Endoplasmic reticulum | Receptor tyrosine kinase |
| FLT4 | K520E, R658W | Nucleus; plasma membrane | Receptor tyrosine kinase |
| ROS1 | N692H | Vesicles | Receptor tyrosine kinase |
| TERT | -124C>T | Nucleoplasm | Telomerase |
| WT1 | R471S | Nucleoplasm | WT1 Transcription Factor |
| MYC | L435F | Nucleoplasm | MYC Transcription Factor |
| ZNF703 | G406R | Nucleus | Transcriptional co-repressor |
| c11orf30 | C1211S | Nucleoplasm | Trascriptional Repressor |
| FLCN | R320Q | Nucleus; cytosol | Tumor suppressor |
| TNFAIP3 | R706Q | Cytosol | Ubiquitination |
*denotes mutations causing a premature stop codon
fs denotes the presence of a frameshift mutation