Table 2.
48 SMGs mutated at differential frequency across four molecular subgroups of serous and endometrioid endometrial cancers (15)
| Gene Symbol |
Gene Name | Mutation Frequency |
Mutation Frequency |
Mutation Frequency |
Mutation Frequency |
Mutation Frequency |
|---|---|---|---|---|---|---|
| POLE/ Ultramutated (n=17) |
Hypermutated /MSI (n=65) |
CN_Low/ MSS (n=90) |
CN_High/ Serous-like (n=60) |
All four subgroups (n=232) |
||
| TP53 | Tumor protein p53 | 35% | 8% | 1% | 92% | 29% |
| PTEN | Phosphatase and tensin homolog | 94% | 88% | 77% | 10% | 64% |
| POLE | Polymerase (DNA directed), epsilon, catalytic subunit |
100% | 8% | 3% | 2% | 11% |
| MKI67 | Antigen identified by monoclonal antibody Ki-67 | 94% | 18% | 2% | 0% | 13% |
| FAT3 | FAT tumor suppressor homolog 3 (Drosophila) | 76% | 31% | 1% | 0% | 15% |
| TAF1 | TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa |
82% | 25% | 1% | 5% | 15% |
| ZFHX3 | Zinc finger homeobox 3 | 82% | 31% | 2% | 7% | 17% |
| RPL22 | Ribosomal protein L22 | 29% | 37% | 0% | 0% | 13% |
| SPTA1 | Spectrin, alpha, erythrocytic 1 (elliptocytosis 2) | 76% | 14% | 6% | 0% | 12% |
| FAM135B | Family with sequence similarity 135, member B | 76% | 11% | 4% | 2% | 11% |
| CSMD3§ | CUB and Sushi multiple domains 3 | 94% | 22% | 10% | 10% | 19% |
| GIGYF2 | GRB10 interacting GYF protein 2 | 59% | 20% | 0% | 7% | 12% |
| CSDE1 | Cold shock domain containing E1, RNA-binding | 59% | 15% | 1% | 0% | 9% |
| MLL4 | Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 4 |
65% | 22% | 4% | 0% | 13% |
| ATR | Ataxia telangiectasia and Rad3 related | 65% | 9% | 0% | 2% | 8% |
| CTNNB1 | Catenin (cadherin-associated protein), beta 1, 88kDa | 41% | 20% | 52% | 3% | 30% |
| USH2A | Usher syndrome 2A (autosomal recessive, mild) | 76% | 18% | 4% | 5% | 14% |
| LIMCH1 | LIM and calponin homology domains 1 | 53% | 12% | 0% | 0% | 7% |
| RRN3P2 | RNA Polymerase I Transcription Factor Homolog (S. Cerevisiae) Pseudogene |
6% | 0% | 0% | 0% | 0% |
| FBXW7 | F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase |
82% | 9% | 6% | 22% | 16% |
| CDH19 | Cadherin 19, type 2 | 59% | 5% | 1% | 5% | 7% |
| USP9X | Ubiquitin specific peptidase 9, X-linked | 59% | 17% | 1% | 2% | 10% |
| COL11A1 | Collagen, type XI, alpha 1 | 71% | 9% | 2% | 8% | 11% |
| BCOR | BCL6 corepressor | 65% | 17% | 7% | 0% | 12% |
| ARID1A | AT rich interactive domain 1A (SWI-like) | 76% | 37% | 42% | 5% | 34% |
| ZNF770 | Zinc finger protein 770 | 41% | 5% | 0% | 0% | 4% |
| ARID5B | AT rich interactive domain 5B (MRF1-like) | 47% | 23% | 6% | 0% | 12% |
| SLC9C2 | Solute carrier family 9, member C2 (putative) | 53% | 5% | 2% | 3% | 7% |
| KRAS | v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog |
53% | 35% | 16% | 3% | 21% |
| PNN | Pinin, desmosome associated protein | 35% | 6% | 0% | 0% | 4% |
| INPP4A | Inositol polyphosphate-4-phosphatase, type I, 107kDa |
29% | 9% | 2% | 0% | 6% |
| CTCF | CCCTC-binding factor (zinc finger protein) | 41% | 23% | 21% | 0% | 18% |
| CHD4 | Chromodomain helicase DNA binding protein 4 | 65% | 6% | 12% | 13% | 15% |
| AMY2B | Amylase, alpha 2B (pancreatic) | 29% | 8% | 0% | 0% | 4% |
| RBMX | RNA binding motif protein, X-linked | 24% | 12% | 0% | 0% | 5% |
| PPP2R1A | Protein phosphatase 2, regulatory subunit A, alpha |
29% | 9% | 1% | 22% | 11% |
| SIN3A | SIN3 transcription regulator homolog A (yeast) | 35% | 14% | 4% | 0% | 8% |
| TNFAIP6 | Tumor necrosis factor, alpha-induced protein 6 | 29% | 2% | 1% | 0% | 3% |
| PIK3R1 | Phosphoinositide-3-kinase, regulatory subunit 1 (alpha) |
65% | 40% | 33% | 13% | 32% |
| SGK1 | Serum/glucocorticoid regulated kinase 1 | 35% | 3% | 6% | 2% | 6% |
| HOXA7 | Homeobox A7 | 18% | 6% | 0% | 0% | 3% |
| METTL14 | Methyltransferase like 14 | 24% | 5% | 3% | 0% | 4% |
| HPD | 4-hydroxyphenylpyruvate dioxygenase | 12% | 6% | 0% | 0% | 3% |
| MIR1277 | MicroRNA 1277 | 12% | 6% | 0% | 0% | 3% |
| CCND1 | Cyclin D1 | 18% | 12% | 4% | 0% | 6% |
| MECOM | MDS1 and EVI1 complex locus | 24% | 5% | 4% | 0% | 5% |
| NFE2L2 | Nuclear factor (erythroid-derived 2)-like 2 | 12% | 11% | 3% | 0% | 5% |
| ESR1 | Estrogen receptor 1 | 24% | 2% | 6% | 2% | 5% |
Mutation frequency of protein-encoding genes was retrieved using cBioPortal (URL: http://www.cbioportal.org/public-portal/); mutation frequency of MIR1277 was retrieved using the TCGA data portal (URL: https://tcga-data.nci.nih.gov/tcga/).
§
Probable false-positive (70)