Table 3.
Histopathology features of PALB2-associated tumors from probands who carry truncating mutations
| Mutation | Pedigree | Breast cancer diagnoses (age at diagnosis) |
Grade | Histological type | ER | PR | HER2 |
|---|---|---|---|---|---|---|---|
| PALB2:c.1984A>T | A | Proband (59) | |||||
| Proband (65) | 3 | IDC | + | + | + | ||
| PALB2:c.3113G>A | C | Proband (48) | 3 | IDC | + | − | Eq |
| PALB2:c.2120delC | F | 3 | IDC | + | + | ||
| PALB2:c.2325dupA | G | Proband (39) | 3 | IDC | + | + | |
| PALB2:c.3426dupA | H | Proband (42) | |||||
| Proband (69) | 3 | IDC | + | + | + |
Histopathology information was presented where available
ER estrogen receptor, PR progesterone receptor, HER2 human epidermal growth factor-2, IDC invasive ductal carcinoma, + positive, − negative, uk unknown, Eq equivocal, tested to be 2+ by immunohistochemistry but not confirmed by fluorescence in situ hybridisation