Table 2. Clinical features of the patients with the validated variants.
| Variant | Family id | Cancer (age at dg) | Histology, grade | Receptor status | Family history of BC/OC (age at dg if known) |
|---|---|---|---|---|---|
| AKT2 c.148C>A | 131 | Bil. BC (54) | Intraductal and Ductal, 2 | na | Bil. BC (46), BC (48) |
| AKT2 c.148C>A | 244 | BC (45) | Ductal, 2 | ER+, PR+, HER2− | Bil. BC (<45), 2 × BC (<35, 46) |
| ATM c.2572T>C ATM c.3161C>G | TuFamBC10 | BC (49) | Ductal, 3 | ER+, PR+, HER2+ | Bil. BC (43) |
| ATM c.5558A>T | TuFamBC5 | BC (32) | Ductal, 1 | ER+, PR+, HER2− | 3 × BC (44, 49, 70) |
| CDKN2A c.496C>T RAD1 c.341G>A | 122 | BC (25) | Ductal, 2 | ER−, PR−, HER2+ | — |
| CDKN2A c.496C>T RBL2 c.1723G>C | 104 | BC (50), OC (41) | BC: Ductal, 2; OC: na | ER+,PR+, HER2− | — |
| CDKN2A c.496C>T MYC c.77A>G | 213 | BC (68) | Lobular, na | ER+, PR−, HER2– | 3 × BC (47, 50, 62) |
| MYC c.77A>Ga | 256 | BC (62) | Ductal, 3 | ER−, PR−, HER2− | 3 × BC (48, 60, 67) |
| MYC c.77A>G | 208 | BC (50) | Ductal, 2 | ER+, PR+, HER2− | 3 × BC |
| MYC c.77A>G | TuFamBC3 | BC (28) | Ductal, 3 | ER−, PR–, HER2− | BC (45) |
| MYC c.77A>G | TuFam43 | BC (49), OC (77) | BC: na; OC: endometrioid, 2 | Breast: na; ovarian: ER−, PR+, HER2 na | 3 × BC (62, 69, 69) |
| PLAU c.43G>T | TuFam47 | BC (55) | Mucinous, 2 | ER+, PR+, HER2− | 5 × BC (45, 51, 55, 57, 81) |
| PLAU c.43G>T | 258 | BC (57) | Lobular, 2 | ER+, PR+, HER2− | 2 × BC (53, 53) |
| RAD1 c.341G>A | TuFam50 | BC (51) | Lobular, 2 | ER+, PR+, HER2− | 2 × BC (46, 64) |
| RAD1 c.341G>A | TuFamBC27 | BC (50, 60) | Ductal and Tubular, 1; | na | 4 × BC (35, 40, 45, 45) |
| RAD1 c.341G>A RAD52 c.538G>A | 111 | BC (45) | Ductal, 2 | ER+, PR+, HER2− | BC, OC |
| RAD1 c.341G>A RBL2 c.1723G>C | 218 | BC (55) | Intraductal, na | na | BC (36) |
| RAD52 c.538G>A | TuFam28 | BC (43) | Lobular, 2 | ER+, PR+, HER2− | 2 × BC (48, -) |
| RAD52 c.538G>A | 229 | Bil. BC (68) | na | na | Bil. BC (50, 70) |
| RAD52 c.538G>A | TuFamBC16 | BC (74) | Ductal, 2 | ER+, PR+, HER2− | Bil. BC (57), BC (80) |
| RBL2 c.1723G>C | TuFam48 | BC (42) | Ductal, 2 | ER+, PR+, HER2− | BC (38) |
| RBL2 c.1723G>C | TuFamBC4 | BC (32) | Ductal, 3 | ER−, PR+, HER2− | 2 × BC (early onset, 60) |
| RBL2 c.1723G>C | TuFam69 | BC (25) | Ductal, 3 | ER−, PR−, HER2− | 2 × BC (50, 70) |
| RBL2 c.1723G>C | TuFamBC1 | BC (38) | Ductal, 3 | ER+, PR+, HER2+ | Bil. BC (61), 2 × BC (36, 59) |
| RBL2 c.1723G>C | 115 | BC (59) | Lobular, 2 | ER+, PR+, HER2– | 5 × BC |
| RBL2 c.1723G>C | TuFamBC9 | Bil. BC (44) | Ductal, na | ER+, PR+, HER2− | BC (58) |
| WNT3A c.277G>A | TuFam58 | BC (67) | Ductal, 3 | ER+, PR+, HER2− | 2 × BC (30, 58) |
| WNT10A c.337C>T | TuFam65 | BC (48) | Ductal, 2 | ER+, PR+, HER2− | 3 × BC (39, -, -) |
Abbreviations: BC, bilateral breast cancer; DCIS, ductal carcinoma in situ; na, not available; OC, ovarian cancer.
a
homozygous.