Gene | Changes | Pathways affected | References |
ARID1A | Mutation in approximately 50% | SWI/SNF chromatin remodeling complex | 39–44 48 51 54 55 127 128 |
ARID1B | Mutation in 6%–18% | SWI/SNF chromatin remodeling complex | 41 42 48 51 |
SMARCA4 | Mutation in 5%–18% | SWI/SNF chromatin remodeling complex | 41 48 49 |
PIK3CA | Mutation in approximately 50% | PI3K/AKT | 39 41–46 48 51 54 55 127 128 |
PIK3R1 | Mutation 7%–10% | PI3K/AKT | 41–43 48 51 127 128 |
AKT2 | Amplification in 8%–26% | PI3K/AKT | 41 44 58 128 |
PTEN | Mutation in 2%–13% | PI3K/AKT | 41–44 49 127 128 |
KRAS | Mutation in 4.7%–20% | MAPK | 39 41–45 48 51 54 55 127 128 |
PPP2R1A | Mutation in 4.1%–20% | MAPK | 39 42–44 48 51 57 128 |
ERBB2 | Mutation and amplification in 2%–13% | MAPK | 41 44 49 54 55 128 |
MET | Amplification in 24%–37% | MAPK | 58 59 |
TP53 | Mutation in 8.5%–21.6% | DNA repair | 43–45 49 51 55 127–129 |
TERT promoter | Mutation in 5%–16% | TERT | 61 62 130 |
ZNF217 | Amplification in 20%–36% | ZNF217 | 65 68 69 |
Based on Mabuchi et al.131
AKT2, AKT serine/threonine kinase 2; ARID1A, AT-rich interactive domain 1A; ARID1B, AT-rich interactive domain 1B; ERBB2, erb-b2 receptor tyrosine kinase 2; GTPase, PPP2R1A, protein phosphatase 2 scaffold subunit A; KRAS, KRAS proto-oncogene; MET, MET proto-oncogene, receptor tyrosine kinase; PI3K, phosphatidylinositol 3-kinase; PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; PIK3R1, phosphoinositide-3-kinase regulatory subunit 1; PTEN, phosphatase and tensin homolog; SMARCA4, SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4; SWI/SNF, switch/sucrose non-fermentable; TERT, telomerase reverse transcriptase; ZNF217, zinc finger protein 217.