Table 1.
Next-Generation Sequencing Genomic Profile by Foundation One (August 2015)
| Genomic Profile | |
|---|---|
| Genomic alterations | |
| FGF19 amplification | CCND1 amplification |
| FGF4 amplification | CCND2 amplification |
| FGF23 amplification | CDKN2A/B loss |
| FGF3 amplification | CHD2 D213N |
| FGF6 amplification | CREBBP R1392* |
| EMSY amplification | |
| KDM5A amplification | |
| KRAS amplification | |
| MYC duplication exons 2 and 3 | |
| TP53 E204* | |
| Variants of unknown significance | |
| AKT2 E323Q | IGF1R S909C |
| ATM E322D | KLHL6 amplification |
| ATR amplification | NOTCH2 T239S |
| BCL6 amplification | PIK3CA amplification |
| BLM R543H | PIK3CB amplification |
| CARD11 truncation | PIK3R2 R559H |
| CDKN1B amplification | PRDM1 K188E |
| CHD4 amplification | RANBP2 amplification |
| DICER1 A948T | SOX2 amplification |
| EPHB1 amplification | TERC amplification |
| GRM3 amplification | PRKCI amplification |
NOTE. Gene symbols and full gene name as approved by the HUGO Gene Nomenclature Committee. Abbreviations: AKT2, AKT serine/threonine kinase 2; ATM, ATM serine/threonine kinase; ATR, ATR serine/threonine kinase; BCL6, B cell CLL/lymphoma 6; BLM, bloom syndrome RecQ like helicase; CARD11, caspase recruitment domain family member 11; CCND1, cyclin D1; CCND2, cyclin D2; CDKN1B, cyclin-dependent kinase inhibitor 1B; CDKN2A, cyclin-dependent kinase inhibitor 2A; CDKN2B, cyclin-dependent kinase inhibitor 2B; CHD2, chromodomain helicase DNA binding protein 2; CHD4, chromodomain helicase DNA binding protein 4; CREBBP, cAMP-response element binding protein binding protein; DICER1, dicer 1 ribonuclease III; EMSY, BRCA2 (DNA repair associated) interacting transcriptional repressor; EPHB1, EPH receptor B1; FGF3, fibroblast growth factor 3; FGF4, fibroblast growth factor 4; FGF6, fibroblast growth factor 6; FGF19, fibroblast growth factor 19; FGF23, fibroblast growth factor 23; GRM3, glutamate metabotropic receptor 3; IGF1R, insulin-like growth factor 1 receptor; KDM5A, lysine demethylase 5A; KLHL6, kelch-like family member 6; KRAS, KRAS proto-oncogene, GTPase; MYC, MYC proto-oncogene, bHLH transcription factor; PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit α; PIK3CB, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit β; PIK3R2, phosphoinositide-3-kinase regulatory subunit 2; PRDM1, PR/SET domain 1; PRKCI, protein kinase C ι; RANBP2, RAN binding protein 2; SOX2, SRY-box 2; TERC, telomerase RNA component; TP53, tumor protein p53.