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. 2017 Jun 23;4(5-6):47–56. doi: 10.18632/oncoscience.352

Table 2. Cellular processes and pathway with identified aberrations in advanced CUP patients.

Processes and pathways implicated Mutations identified in tested specimen
Apoptosis MCL1 amplification
Cell cycle regulation CDKN2A/B loss, SOX2 amplification
CDK12 Q570*, CCND1 amplification
FGF19 amplification, FGF3 amplification
FGF4 amplification, CCNE1 amplification
CCND1 amplification, SMARCB1 I365fs*22+
Epigenetic regulation MLL2 R4904*, KDM6A S466
ARID1A Y1211fs*5, S1929fs*25, and E2250fs*28
SETD2 G1644*, N2071fs*17
ATRX R840fs*29, CREBBP S893L
PI3K/AKT/mTOR pathway signaling PIK3CA H1047R, Q75E, E545K, and amplification
FBXW7 splice 726+1 G>A, R465H, and W244
MAPK pathway signaling KRAS amplification, FGFR1 amplification
Transcription regulation MYCL1 amplification, MYST3 amplification
EWSR1 EWSR1-CREB1 fusion, EMSY amplification
SMAD4 P130S, NFE2L2 D11Y
ETV1 rearrangement, NOTCH1 APIP-NOTCH1 fusion
Tumor suppressor MDM4 amplification, MDM2 amplification
TP53 L45P, Q38fs*79, R273C, R248Q, R196*, and R248W
Wnt signaling CDC73 Q333*, CTNNB1 S33P