Table 2 Clinicopathologic summary of somatic mutations identified with associated clinical and pathologic features
Somatic mutation | BRCA mutation status | Age (years) | Primary tumour size (mm) | Histologic type | BRE grade | LVSI | Perineural invasion | pN stage | DCIS – nuclear grade | Background breast tissue | ER (Allred score) | PR (Allred score) | HRE2 CISH | CK5 | Intrinsic phenotype |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIK3CA (N345K) | Â | 30.1 | 15 | IDC | 3 | N | N | x | High | Absent | 8 | 0 | 9.6 | Neg | HER2 |
PIK3CA (N345K) | BRCA2 5950_5951 del CT (STOP 1909) | 43.1 | 17 | IDC with micropapillary component | 2 | N | Y | N1 | Low | Absent | 5 | 5 | 2.0 | Neg | Luminal |
PIK3CA (E547K) | Â | 47.1 | 14 | IDC | 3 | N | Y | x | Intermediate | Gynaecomasia | 8 | 8 | 3.2 | Neg | Luminal |
PIK3CA (E542K, E547K) | Â | 50.3 | 16 | IDC | 3 | Y | Y | N2 | Intermediate | Absent | 8 | 8 | 2.0 | Neg | Luminal |
PIK3CA (H1047R) | Â | 59.8 | 24 | IDC | 2 | Y | Y | N1 | High | Normal breast tissue | 7 | 6 | 2.6 | Neg | Luminal |
PIK3CA (H1047R) | Â | 62.7 | 20 | IDC | 2 | N | N | N1 | Intermediate | Normal breast Tissue | 8 | 8 | 2.3 | Neg | Luminal |
PIK3CA (E542K) | Â | 65.3 | 30 | IDC | 3 | N | N | N1 | Absent | Absent | 8 | 4 | 2.3 | Neg | Luminal |
PIK3CA (E542K) | Â | 73.8 | 25 | IDC | 2 | N | N | N0 | High | Normal breast tissue | 0 | 7 | 2.1 | Neg | Luminal |
PIK3CA (H1047R) | BRCA1 del exons 21_24 | 80.1 | 15 | IDC | 3 | N | N | N1 | High | Normal breast tissue | 5 | 8 | 1.7 | Neg | Luminal |
PTEN (E314a) | BRCA2 9161 C>A (S2978X) | 58.7 | 22a (contralateral carcinoma later) | IDC with micropapillary component | 2 | N | N | N0 | Absent | Absent | 7 | 7 | 3.2 | Neg | Luminal |
TP53 (A318P) | BRCA2 del exons 1_2 | 60.2 | 28 | IDC | 3 | N | N | N1 | Absent | Absent | 7 | 7 | 2.2 | Neg | Luminal |
TP53 (R306Q) | BRCA2 983 986 del ACAG (STOP 275) | 61.1 | 25 | IDC | 2 | Y | Y | N0 | Intermediate | Normal breast tissue | 8 | 8 | 2.2 | Neg | Luminal |
