Table 3.
Patient characteristics with germline pathogenic variants in 28 disease-causing genes (excluding BRCA1/BRCA2).
| Case | Variant | Patient characteristics | ||||
|---|---|---|---|---|---|---|
| HBOC history level | Primary tumor site | Age at primary tumor diagnosis | Breast cancer laterality | Additional cancer | ||
| A1013 | PALB2:p.M723fs | 1 | Breast | 36 | Unilateral (n = 1) | – |
| A0139 | PALB2:p.R1086* | 1 | Breast | 63 | Unilateral (n = 1) | – |
| B0215 | PALB2:p.R1086* | 2 | Breast | 37 | Unilateral (n = 1) | – |
| A0214 | PALB2:p.E462* | 2 | Breast | 50 | Bilateral (n ≥ 2) | – |
| B0219 | PALB2:p.E462* | 1 | Breast | 54 | Bilateral (n ≥ 2) | Thyroid |
| B0277 | PALB2:p.L484* | 2 | Breast | 47 | Unilateral (n = 1) | – |
| A0338 | PALB2:p.T274fs | 2 | Breast | 44 | Bilateral (n ≥ 2) | – |
| D0241 | ATM:p.R805* | 2 | Ovary | 50 | Not applicable | – |
| E0125 | ATM:p.P80fs | 2 | Breast | 47 | Unilateral (n = 1) | – |
| A0346 | ATM:p.Q374fs | 1 | Breast | 65 | Unilateral (n = 1) | – |
| B0242 | ATM:c.4776+2T>A: Splice Site | 2 | Breast | 49 | Unilateral (n = 1) | – |
| C0158 | ATM:p.F1837fs | 2 | Breast | 48 | Unilateral (n = 1) | – |
| A0301 | BARD1:p.R641* | 2 | Breast | 58 | Unilateral (n = 1) | – |
| A0331 | BARD1:p.R150* | 2 | Breast | 26 | Unilateral (n = 1) | – |
| ATM:p.A2626fs | 2 | Breast | 26 | Unilateral (n = 1) | – | |
| A0298 | BARD1:p.Q449* | 1 | Breast | 35 | Unilateral (n = 1) | – |
| B0258 | BARD1:p.A173fs | 2 | Breast | 42 | Bilateral (n ≥ 2) | – |
| E0114 | BARD1:Exon 5–7 Deletion | 1 | Breast | 42 | Bilateral (n ≥ 2) | Endometrial |
| C0120 | RAD51D:p.K111fs | 1 | Breast | 33 | Unilateral (n = 1) | – |
| D0239 | RAD51D:p.K111fs | 2 | Ovary | 58 | Not applicable | – |
| A0231 | RAD51D:p.V152fs | 1 | Breast | 40 | Bilateral (n ≥ 2) | – |
| B0220 | RAD51D:p.Q149* | 2 | Breast | 39 | Unilateral (n = 1) | – |
| D0221 | BLM:p.S106fs | 1 | Breast | 40 | Unilateral (n = 1) | – |
| C0256 | BLM:p.S106fs | 1 | Breast | 49 | Bilateral (n ≥ 2) | – |
| B0187 | BLM:p.G512fs | 1 | Breast | 49 | Unilateral (n = 1) | – |
| B0292 | BLM:c.3751 + 2 T > C: Splice Site | 2 | Breast | 49 | Unilateral (n = 1) | – |
| A0281 | BRIP1:p.R356* | 1 | Breast | 33 | Unilateral (n = 1) | – |
| B0285 | BRIP1:p.A1081fs | 1 | Breast | 47 | Bilateral (n ≥ 2) | – |
| B0170 | BRIP1:c.918 + 2 T > C: Splice Site | 1 | Breast | 41 | Unilateral (n ≥ 2) | Thyroid |
| E0237 | RAD51C:c.G133T:p.E45* | 2 | Breast | 50 | Unilateral (n = 1) | – |
| C0206 | RAD51C:Exon 6–9 Deletion | 2 | Breast | 51 | Unilateral (n = 1) | – |
| B0263 | RAD51C:Exon 6–9 Deletion | 2 | Breast | 45 | Bilateral (n ≥ 2) | – |
| B0288 | FANCM:p.Q730fs | 2 | Breast | 34 | Unilateral (n = 1) | – |
| D0231 | FANCM:p.K841fs | 2 | Breast | 41 | Unilateral (n = 1) | – |
| E0131 | RAD50:p.D544fs | 2 | Breast | 49 | Unilateral (n = 1) | – |
| B0198 | NF1:p.G255fs | 1 | Breast | 25 | Unilateral (n = 1) | – |
| A0277 | CHEK2:p.L486fs | 1 | Breast | 37 | Unilateral (n = 1) | – |
| D0222 | RECQL:p.D517_S518delins* | 2 | Breast | 57 | Unilateral (n = 1) | – |
Results are for 35 of 37 cases with breast cancer (2 patients [ATM p.R805* and RAD51D p.K111fs] with ovarian cancer only were excluded). Unilateral (n = 1), Unilateral (n ≥ 2) and Bilateral (n ≥ 2) indicate one unilateral occurrence, at least two unilateral occurrences, and at least two bilateral occurrences of primary breast cancer, respectively. The tumors were defined as independent primaries (not local recurrent tumors) when cancer cells were absent in the surgical margin of the first tumor, and also when the difference could be seen in the position of occurrence, histology, hormonal status and HER2 expression of the second tumor, according to previous criteria50.