Table 3 Type and genomic location of ESR1 alterations detected in FFPE samples
n (%) | |
|---|---|
Total number of ESR1 alterations | 25 (100) |
Point mutations | 22 (88.0) |
p.T140K, c.419C > A (E3) | 1 (4.5) |
p.E380Q, c.1138G > C (E7) | 1 (4.5) |
p.L536P, c.1607 T > C (E10) | 1 (4.5) |
p.Y537N, c.1609 T > A (E10) | 2 (9.0) |
p.Y537S, c.1610A > C (E10) | 6 (27.2) |
p.Y537C, c.1610A > G (E10) | 1 (4.5) |
p.D538G, c.1613A > G (E10) | 10 (45.5) |
Indels | |
V422del (E8) | 1 (4.0) |
Rearrangements | |
ESR1-CCDC170 (E2-E10) | 1 (4.0) |
Amplifications | |
CNV 5.98 | 1 (4.0) |