TABLE 2.
Author | Type of alteration | # of patients | Genes |
---|---|---|---|
Cha et al, 201617 | Mutations | 1 | TP53 (missense), CDKN2C (loss of function) |
Classe et al, 201812 | Insertion/deletion | 27 | CDKN2A, CTR9 |
Stop/gain | RB1, TP53 | ||
Non‐synonymous SNV | ARID1A, BRCA2, BRIP1, CHD7, DNMT3A, DNMT3B, EXO1, FZD9, GLI2, GLI3, HERC2, IDH2, KDM2B, KIT, KMT2A, KMT2C, KMT2D, LEF1, MSH3, NAA10, NUMA1, RBBP4, SMARCA4, SMARCC1, SMC2, TOPBP1, TP53, XRCC1, YWHAE | ||
Gallia et al, 201818 | Deletions | 14 | Dystrophin, LAMA2 |
Gay et al, 201710 | Short variants, truncations, and rearrangements | 41 | ARID1A, ARID2, ATM, AXL‐ARHGEF fusion, BCOR, CDKN1B, CDKN2C, CTCF, CTNNB1, DAXX, IDH2, KDM5C, LRP1B deletion, NF1, NRAS, PBRM1, PIK3CA, PIK3R2, PTCH1, PTEN, SMARCA4, TET2, TNFAIP3, TP53, TSC1, |
Focal copy number alterations |
Amplification: BCL2L1, BCL2L2, CDK6, HGF, FGF14, GNAS, IRS2, KIT, MDM4, MYC, PIK3C2B, RICTOR Loss: ARID2, CDKN2A, CDKN2B, CDKN2C, FAF1, MLH1, NF1, PTPRD, TP53, RB1, |
||
Non focal amplifications | ARFRP1, AURKA, FGF10, FGFR4, FLT4, GATA6, LYN, PDGFRB, RICTOR, SRC, TOP1, ZNF217, | ||
Kim et al, 201750 | Recurrent and/or pathogenic somatic mutations | 6 | ANKHD1, ARHGEF9, ATM, CNOT10, CSDM1, DCTN1, ITSN1, LMTK2, MACF1 (recurrently mutated), MAP2K1, MMRN2, MYOCD, RCE1, RORB, SDCCAG8, ZNF471 |
Inter‐chromosomal in‐frame fusion gene | DHRS2‐GSTM2 (recurrent in two samples) | ||
Topcagic et al, 201820 | Mutations | 15 | APC, c‐KIT, CTNNB1, FH, SMAD4, TP53, |
Variants of unknown significance | CDH1, cMet, EGFR, PDGFRA, | ||
Lazo de la Vega et al, 201721 | Mutations | 18 | CTNNB1, KMT2A, KMT2C, PTEN, TP53 |
Copy number alterations |
Loss: CDKN2A, CDKN2B Gain: FGFR3, CCND1 |
||
Frameshift insertion | DCC, RNF213 | ||
Wang et al, 201651 | Missense mutations | 1 | EGFR, FGFR2, KDR, RET |
Weiss et al, 201248 | Insertion/deletions /gain/loss | 1 |
Deletions: ARID4B, CCDC120, CYP4A22 Insertions: KCNA10, OBSCN |
Gene mutations | KDR, MAP4K2, MYC, NLRC4, SIN3B, TAOK2, TP53, |