Table 1.
Specific co-alterations in the PI3K and the cell-cycle pathway genes in ER+ BC patients in Avera
| Metastatic | Adjuvant | NeoAdjuvant |
|---|---|---|
| AKT1 (E17K) & CCND1 (Amp) | PIK3CA (E545K) & CCND1 (Amp) | PIK3CA (E545K) & CCND1 (Amp) |
| PIK3CA (E542K) & CCND1 (Amp) | PIK3CA (H1047R) & CDKN2A (Loss) | PIK3CA (E970K, H1047R)/PTEN (R130Q) & RB1 (E31*) |
| CDK4 (Amp) & MDM2 (Amp) | PIK3CA (K111 del)/TSC2 (R1753fs*58+) & CCNE1 (Amp) | PIK3CA (E542K) & CCND1 (Amp) |
| PIK3CA (Amp, H1047R)/MDM4 (Amp) & CCND1 (Amp) | PIK3CA (C420R) & CCND1 (Amp) | |
| PIK3CA (Amp, H1047R)/MDM4 (Amp) & CCND1 (Amp) | TSC2 (A607T) & CHK1 (R160H) | |
| PIK3CA (E724K, H1047L) & CCND1 (Amp)/CHK2 (T533fs*12+) | PIK3CA (E545K) & CHK2 (Splice site 444+1G>A) | |
| PIK3CA (E545K)/MDM2 (Amp)/RICTOR (Amp) & CCND1 (Amp)/CDK4 (Amp) | ||
| PIK3CA (E545K)/PTEN (Loss) & RB1 (E580*) | ||
| MTOR (I1973F-subclonal)/MDM2 (Amp) & CCND1 (Amp) | ||
| AKT1 (E17K) & CDKN1 B (Q65*) | ||
| AKT3 (Amp)/PIK3CA (Amp) & CCND1 (Amp) | ||
| PIK3CA (E726K, Q546R) & RB1 (R556*) | ||
| PIK3CA (E545K) & CCND1 (Amp) | ||
| PIK3CA (H1047L)/PTEN (R233*) & CHK2 (Loss exons 9-10) | ||
| STK11 (Loss)/RPTOR (Amp) & CDKN2A (Loss) | ||
| PIK3CA (C420R) & CDKN1B (F33fs*9) | ||
| PIK3CA (E545K)/PIK3R1 (D464H) & CCND1 (Amp) | ||
| PIK3R2 (Rearrangement intron 13) & CDKN2A/B (Loss) | ||
| PIK3CA (E545K) & CCND1 (Amp) | ||
| PIK3CA (E545K)/PTEN (C134F) & CCND1 (Amp) |
Specific types of alterations in genes of the PI3K and the cell-cycle pathways co-altering in ER+ BC patients with metastatic, adjuvant and neo-adjuvant diseases are presented in separate columns with different colors.