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 |
