Table 1.
Significantly mutated genes (SMGs) in three molecular subgroups of endometrial cancer (15)
| Molecular subgroup |
No. of SMGs |
Gene symbol |
Gene name | Somatic mutation frequency |
|---|---|---|---|---|
| Hypermutated/ MSI |
21 | PTEN | Phosphatase and tensin homolog | 87.7% |
| PIK3CA | Phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
53.8% | ||
| PIK3R1 | Phosphoinositide-3-kinase, regulatory subunit 1 (alpha) |
41.5% | ||
| ARID1A | AT rich interactive domain 1A (SWI-like) | 36.9% | ||
| RPL22 | Rbosomal protein L22 | 36.9% | ||
| KRAS | Kirsten rat sarcoma viral oncogene homolog | 35.4% | ||
| ZFHX3 | Zinc finger homeobox 3 | 30.8% | ||
| ARID5B | AT rich interactive domain 5B (MRF1-like) | 23.1% | ||
| CTCF | CCCTC-binding factor (zinc finger protein) | 23.1% | ||
| CTNNB1 | Catenin (cadherin-associated protein), beta 1, 88kDa |
20.0% | ||
| ATR | Ataxia telangiectasia and Rad3 related | 18.5% | ||
| GIGYF2 | GRB10 interacting GYF protein 2 | 16.9% | ||
| CSDE1 | Cold shock domain containing E1, RNA-binding | 15.4% | ||
| FGFR2 | Fibroblast growth factor receptor 2 | 13.8% | ||
| CCND1 | Cyclin D1 | 12.3% | ||
| LIMCH1 | LIM and calponin homology domains 1 | 12.3% | ||
| RBMX | RNA binding motif protein, X-linked | 12.3% | ||
| NKAP | NFKB activating protein | 10.8% | ||
| HIST1H2BD | Histone cluster 1, H2bd | 7.7% | ||
| TNFAIP6 | Tumor necrosis factor, alpha-induced protein 6 | 7.7% | ||
| MIR1277 | microRNA 1277 | 6.2% | ||
| Copy number low/MSS |
16 | PTEN | Phosphatase and tensin homolog | 76.7% |
| PIK3CA | Phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
53.3% | ||
| CTNNB1 | Catenin (cadherin-associated protein), beta 1, 88kDa |
52.2% | ||
| ARID1A | AT rich interactive domain 1A (SWI-like) | 42.2% | ||
| PIK3R1 | Phosphoinositide-3-kinase, regulatory subunit 1 (alpha) |
33.3% | ||
| CTCF | CCCTC-binding factor (zinc finger protein) | 21.1% | ||
| KRAS | Kirsten rat sarcoma viral oncogene homolog | 15.6% | ||
| FGFR2 | Fibroblast growth factor receptor 2 | 13.3% | ||
| CHD4 | Chromodomain helicase DNA binding protein 4 | 12.2% | ||
| SPOP | Speckle-type POZ protein | 10.0% | ||
| CSMD3§ | CUB and Sushi multiple domains 3 | 10.0% | ||
| SOX17 | SRY (sex determining region Y)-box 17 | 7.8% | ||
| SGK1 | Serum/glucocorticoid regulated kinase 1 | 6.7% | ||
| BCOR | BCL6 corepressor | 6.7% | ||
| MECOM | MDS1 and EVI1 complex locus | 4.4% | ||
| METTL14 | Methyltransferase like 14 | 3.3% | ||
| Copy number high/serous-like |
8 | TP53 | Tumor protein p53 | 91.7% |
| PIK3CA | Phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
46.7% | ||
| FBXW7 | F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase |
21.7% | ||
| PPP2R1A | Protein phosphatase 2, regulatory subunit A, alpha |
21.7% | ||
| PIK3R1 | Phosphoinositide-3-kinase, regulatory subunit 1 (alpha) |
13.3% | ||
| CHD4 | Chromodomain helicase DNA binding protein 4 | 13.3% | ||
| PTEN | Phosphatase and tensin homolog | 10.0% | ||
| CSMD3§ | CUB and Sushi multiple domains 3 | 10.0% |
§
Probable false-positive (70)