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Table 1 Somatic mutations in lobular neoplasia, primary ILC (and their variants), and metastatic ILC

From: Invasive lobular carcinoma of the breast: the increasing importance of this special subtype

  Lee et al. [29] Harrison et al. [27] Shamir et al. [33] Ciriello et al. [32] Michaut et al. [34] Desmedt et al. [35] Rosa-Rosa et al. [36] Zhu et al. [37] Richard et al. [38] Pareja et al. [39] Sokol et al. [40]
CLCIS (n = 43) PLCIS (17)
FLCIS (2) (n = 19)
PLCIS (10)
FLCIS (6) (n = 16)
ILC (n = 127) ILC (n = 144) ILC (n = 413) PILC (n = 27) PILC (n = 17) Primary ILC (n = 32) Metastatic ILC (n = 32) Primary ILC (n = 127) Metastatic ILC (n = 132) Metastatic ILC (n = 180)*
Mutations CDH1 81.0% 94.7% 94.0% 63.0% 42.7% 65.4% 89.0% 59.8% 53% 62.5% 82% 76% 77%
PIK3CA 32.0% 31.6% 56.2% 48.0% 33.8% 43.3% 33.0% 52.9% 44% 44% 57% 52% 52.9%
ERBB2 7.0% 68.4% 37.5% 4.0% 4.3% 5.1% 26.0% 17.6% 12.5% 15.6% 2% 12% 8.3%
ERBB3 NR 21.1% 18.8% NR 2.9% 3.6% NR 23.5% 3% 0% NR NR < 5%
RUNX1 2.3% 21.1% NR 10.0% NR 3.4% NR 11.8% 3% 6% 9% 5% ~ 7%
CBFB 19.0% 15.8% 12.5% 2.0% NR NR NR 17.6% NR NR NR NR NR
FOXA1 4.7% 10.5% 31.3% 7.0% NR 9.0% NR 5.9% 15.6% 15.6% 8% 11% NR
GATA3 4.7% 10.5% 12.5% 5.0% 5.1% 7.3% 7.0% 5.9% 15.6% 15.6% 3% 7% 2.2%
ARID1A 2.3% 10.5% 6.3% 17.0% 7.0% 6.3% 15.0% 5.9% 12.5% 12.5% 8% 11% ~ 12%
TP53 0% 5.3% 18.8% 8.0% 3.6% 7.3% 19.0% 11.8% 18.7% 9% 9% 20% 23.9%
TBX3 9.3% NR NR 9.0% 8.0% 13.3% 7.0% 23.5% 21.8% 18.7% 10% 16% 12.8%
KMT2C 2.3% NR NR 7.0% 10.0% 8.0% 19.0% 35.3% NR NR NR NR < 5%
MAP3K1 4.7% NR NR 6.0% 5.1% 5.0% 19.0% 35.3% 18.7% 15.6% 10% 10% < 5%
ESR1 NR NR NR NR 1.4% NR NR 5.9% 12.5% 15.6% 2% 15% 17%
AKT1 4.7% NR NR 2.4% 5.1% 4.1% 7.0% 5.9% 6.2% 9.4% NR NR ~ 5%
PTEN 0% NR 6.2% 7.0% 1.4% 3.9% NR 0% 3.1% 0% 9% 9% ~ 10%
NF1 NR NR 0% NR 4.3% 1.0% 7.0% 24% 3.1% 6.2% 2% 8% 12.2
Amp CCND1 NR 26.3% 18.8% 17.0% 15.0% 38.0% 11.0% 12.0% 33.3% 38.0% 17% 17% 22%
ERBB2 4.7% 31.5% 12.5% 7.0% 4.0% 0.0% 4.0% 6.0% 33.3% 15.6% 2% 5% NR
FGFR1 0% 0% NR NR NR 25.3% 7.0% 23.5% 6.2% 6.2% 7% 11% 7.8%
  1. CLCIS classic LCIS, FLCIS florid LCIS, NR not reported, PILC pleomorphic ILC, PLCIS pleomorphic LCIS
  2. *Frequencies of some alterations estimated from Figure 2 in Sokol et al. [40]