Table 2. Mutations detected in PIK3CA, ERBB2, ESR1 and AKT1 genes.
Primary tumor mutations | Relapse mutations | |||||||
---|---|---|---|---|---|---|---|---|
PIK3CA | ERBB2 | ESR1 | AKT1 | PIK3CA | ERBB2 | ESR1 | AKT1 | |
Patient 2 | x | x | x | x | x | c.3658G>T, p.Gly1220Cys (G3658T, G1220C) | x | x |
Patient 4 | c.1624G>A, p.Glu542Lys (G1624A, E542K) c.3130A>C, p.Asn1044His (A3130C, N1044H) | x | x | x | c.1624G>A, p.Glu542Lys (G1624A, E542K) | x | x | x |
Patient 5 | c.3140A>G, p.His1047Arg (A3140G, H1047R) | x | x | x | c.3140A>G, p.His1047Arg (A3140G, H1047R) | x | x | x |
Patient 6 | x | c.1067C>A, p.Ala356Asp (C1067A, A356D) | x | x | x | c.1067C>A, p.Ala356Asp (C1067A, A356D) | x | x |
Patient 7 | x | c.-1C>T c.2246C>T, p.Ser749Phe (C2246T, S749F) c.1816G>A, p.Asp606Asn (G1816A, D606N) | x | x | x | x | x | x |
Patient 8 | x | x | x | x | x | x | c.382G>A, p.Val128Met (G382A, V128M) | c.117G>T, p.Lys39Asn (G117T, K39N) c.288-7C>T c.656C>T, p.Thr219Ile (C656T, T219I) |
Patient 9 | c.1624G>A, p.Glu542Lys (G1624A, E542K) c.1035T>A, p.Asn345Lys (T1035A, N345K) | x | x | x | c.1035T>A, p.Asn345Lys (T1035A, N345K) | x | x | c.46G>A, p.Gly16Arg (G46A, G16R) |
Patient 10 | c.3104C>T, p.Ala1035Val (C3104T, A1035V) | c.3526C>T, p.Gln1176Ter (C3616T, Q1206X) c.1096C>T, p.Gln366Ter (C1186T, Q396X) c.1087C>T, p.Gln363Ter (C1177T, Q393X) | x | c.32G>A, p.Trp11Ter (G32A, W11X) | x | x | x | x |
Patient 11 | c.1633G>A, p.Glu545Lys (G1633A, E545K) | c.1478C>T, p.Pro493Leu (C1568T, P523L) | x | x | c.1633G>A, p.Glu545Lys (G1633A, E545K) | c.1478C>T, p.Pro493Leu (C1568T, P523L) | x | x |
Patient 12 | x | x | x | x | c.3140A>G, p.His1047Arg (A3140G, H1047R) | x | x | x |
Patient 14 | x | x | c.1469T>G, p.Met490Arg (T1469G, M490R) | x | x | c.135+3G>T | c.600G>C,p.Trp200Cys (G600C, W200C) c.1048G>A, p.Ala350Thr (G1048A, A350T) c.1469T>G, p.Met490Arg (T1469G, M490R) | x |
Patient 15 | x | c.1870A>G, p.Ile624Val (A1960G, I654V) | x | x | x | c.1870A>G, p.Ile624Val (A1960G, I654V) | x | x |
Patient 16 | c.1030G>A, p.Val344Met (G1030A, V344M) c.3140A>G, p.His1047Arg (A3140G, H1047R) | x | x | x | c.1030G>A, p.Val344Met (G1030A, V344M) c.3140A>G, p.His1047Arg (A3140G, H1047R) | x | c.1370-26C>G | x |
PIK3CA “Hotspot” mutations reported in red.