Table 1.
Gene | Aberration | Effect on signaling | Frequency |
Prognosis |
||
---|---|---|---|---|---|---|
HR-positive/luminal | HER2-positive | TNBC/basal-like | ||||
ERB2 | gene amplification or overexpression | hyperactivation of Erb2 signaling (PI3K, MEK) | 10 | 100 | 0 | correlates with poorer outcome |
PTEN | loss of function/reduced expression | hyperactivation of PI3K signaling | 29–44 | 22 | 67 | no consistent correlation |
PIK3CA | activating mutation | hyperactivation of PI3K signaling | 28–47 | 23–33 | 8 | ER+/HER2−, better outcome; ER+/HER2+, poorer outcome |
PIK3CB | amplification | unknown | unknown | |||
IGF1R, INSR | receptor activation | activates IGF-1R/InsR signaling (PI3K, MEK) | 41–48 | 18–64 | 42 | unknown |
FGFR1 | amplification | hyperactivation of FGFR signaling (PI3K, MEK) | 8.6–11.6 | 5.4 | 5.6 | correlates with shorter RFS |
INPP4B | reduced expression or genomic loss | hyperactivation of PI3K signaling | 8 | 38 | 88 | correlates with poorer outcome |
AKT1 | activating mutation | hyperactivation of Akt signaling | 2.6–3.8 | 0 | 0 | unknown |
AKT2 | amplification | hyperactivation of Akt signaling | 2.8 | unknown |
EGFR = Epidermal growth factor receptor, ER = estrogen receptor, FGFR = fibroblast growth factor receptor, HER2 = human epidermal growth factor receptor 2, HR = hormone receptor, IGF-1R = insulin-like growth factor-1 receptor, InsR = insulin receptor, MEK = MAPK/ERK kinase, mTORC1 = mammalian target of rapamycin complex 1, PI3K = phosphatidylinositol 3-kinase, RFS = relapse-free survival, TNBC = triple-negative breast cancer.