Table 4.
Breast cancer properties in patients with germline pathogenic variants in 28 disease-causing genes.
| Case | Variant | Breast cancer properties | |||||
|---|---|---|---|---|---|---|---|
| Tumor ID | Age at surgery | Histology | Hormonal subtype | Nuclear grade | Loss of wildtype allele | ||
| A1013 | PALB2:p.M723fs | T1 | 36 | Solid Tubular | Luminal | 1 | NA |
| A0139 | PALB2:p.R1086* | T1 | 63 | Scirrhous | Luminal | 3 | AST |
| B0215 | PALB2:p.R1086* | T1 | 37 | Solid Tubular | Luminal-HER2 | 3 | NA |
| A0214 | PALB2: p.E462* | T1 | 50 | Scirrhous | Luminal | NA | AST |
| T2 | 55 | Scirrhous | Luminal-HER2 | 1 | NA | ||
| B0219 | PALB2:p.E462* | T1 | 54 | Solid Tubular | Luminal | 2 | AST |
| T2 | 58 | Non-invasive Ductal | Triple Negative | 1 | LOH | ||
| T3 | 61 | Solid Tubular | Triple Negative | 3 | NA | ||
| B0277 | PALB2:p.L484* | T1 | 47 | Scirrhous | Triple Negative | 3 | AST |
| A0338 | PALB2:p.T274fs | T1 | 44 | Scirrhous | Luminal | 3 | NA |
| T2 | 44 | Scirrhous | Luminal | 3 | NA | ||
| E0125 | ATM:p.P80fs | T1 | 47 | Mucinous | Luminal | NA | LOH |
| A0346 | ATM:p.Q374fs | T1 | 65 | Scirrhous | Luminal | 1 | NA |
| B0242 | ATM:c.4776+2T>A | T1 | 49 | Scirrhous | Luminal | 2 | ND |
| C0158 | ATM:p.F1837fs | T1 | 48 | Solid Tubular | Luminal | 2 | LOH |
| A0301 | BARD1:p.R641* | T1 | 58 | Solid Tubular | Triple Negative | 3 | NA |
| A0331 | BARD1:p.R150* | T1 | 26 | Scirrhous | Luminal | 3 | NA |
| ATM:p.A2626fs | T2 | ||||||
| A0298 | BARD1:p.Q449* | T1 | 35 | Scirrhous | Triple Negative | 3 | NA |
| B0258 | BARD1:p.A173fs | T1 | 42 | Solid Tubular | Triple Negative | 3 | LOH |
| T2 | 57 | Solid Tubular | Triple Negative | 3 | NA | ||
| E0114 | BARD1:Exon 5–7 Deletion | T1 | 42 | Papillotubular | Luminal (Unk. HER2) | 1 | NA |
| T2 | 51 | Tubular | Luminal (Unk. HER2) | 1 | NA | ||
| T3 | 64 | Scirrhous | NA | 2 | ND | ||
| C0120 | RAD51D:p.K111fs | T1 | 33 | Papillotubular | Luminal | 3 | LOH |
| A0231 | RAD51D:p.V152fs | T1 | 40 | Non-invasive Ductal | Luminal (Unk. HER2) | 2 | ND |
| T2 | 47 | Non-invasive Ductal | Luminal | 1 | NA | ||
| B0220 | RAD51D: p.Q149* | T1 | 39 | Scirrhous | Luminal | 2 | ND |
| D0221 | BLM:p.S106fs | T1 | 40 | Non-invasive Ductal | Luminal (Unk. HER2) | NA | NA |
| C0256 | BLM: p.S106fs | T1 | 49 | Scirrhous | Luminal | 2 | NA |
| T2 | 49 | Solid Tubular | Luminal | 2 | NA | ||
| B0187 | BLM: p.G512fs | T1 | 49 | Solid Tubular | Luminal | 1 | ND |
| B0292 | BLM:c.3751+2T>C | T1 | 49 | Scirrhous | Luminal | 1 | NA |
| A0281 | BRIP1:p.R356* | T1 | 33 | Mucinous | Luminal | 1 | NA |
| B0285 | BRIP1:p.A1081fs | T1 | 47 | Non-invasive Ductal | Luminal | 1 | LOH |
| T2 | 47 | Papillotubular | Luminal | 1 | NA | ||
| B0170 | BRIP1:c.918+2T>C | T1 | 41 | Scirrhous | Luminal | 1 | NA |
| T2 | 41 | Non-invasive Ductal | Luminal (Unk. HER2) | NA | ND | ||
| E0237 | RAD51C:p.E45* | T1 | 50 | Scirrhous | Luminal | 2 | NA |
| C0206 | RAD51C:Exon 6–9 Deletion | T1 | 51 | Scirrhous | Triple Negative | 2 | LOH |
| B0263 | RAD51C:Exon 6–9 Deletion | T1 | 45 | Scirrhous | Luminal (Unk. HER2) | NA | NA |
| T2 | 45 | Non-invasive Ductal | NA | NA | ND | ||
| B0288 | FANCM:p.Q730fs | T1 | 34 | Solid Tubular | Triple Negative | 3 | ND |
| D0231 | FANCM:p.K841fs | T1 | 41 | Non-invasive Ductal | Luminal | 1 | NA |
| E0131 | RAD50:p.D544fs | T1 | 49 | Scirrhous | Luminal-HER2 | 3 | ND |
| B0198 | NF1:p.G255fs | T1 | 25 | Solid Tubular | Luminal | 2 | LOH |
| A0277 | CHEK2: p.L486fs | T1 | 37 | Papillotubular | Luminal | 1 | ND |
| D0222 | RECQL:p.D517_S518delins* | T1 | 57 | Solid Tubular | NA | NA | NA |
Results are for 48 primary breast tumors from 35 cases with breast cancer (2 patients [ATM p.R805* and RAD51D p.K111fs] with ovarian cancer only were excluded).
T1, T2, and T3 indicate the first, second and third primary breast tumors from the same patient.
Unk. HER2 unknown status for HER2, NA information or assay was not available for the tumor, LOH loss of heterozygosity by copy number (CN) loss, AST additional somatic truncation, ND not detected.