From: Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients
BC№ | HGVS nomenclature | Diagnosis and age of onset | ER | PR | HER2 | TNM | Grade | Stage | Other cancer in patient (age of onset) | Family history of cancer and age of diagnosis |
---|---|---|---|---|---|---|---|---|---|---|
3 | c.5263_5264insC | BC (36) | NA | NA | NA | NA | NA | NA | DC (41) | Grandmother - BC (NA) |
6 | c.5263_5264insC | IDC (43) | - | 1+ | NA | pT2N0Mx | NA | II | OC (45) | Mother – BC (50), sister - BBC (42/53), grandmother – BC and OC (50) |
7 | c.5263_5264insC | BBC (42) | 3+/− | 3+/− | 1+/1+ | pT1N0M0/pT1bpN1M0 | G2/G2 | I/IIB | Grandmother - BC (76), aunt BC(81), father seminoma (NA), cousin with cancer of the oral cavity (NA) | |
17 | c.5263_5264insC | IDC (34) | 2+ | 2+ | NA | NA | G2 | NA | No | |
21 | c.5263_5264insC | IDC (48) | NA | NA | NA | NA | NA | NA | OC (48) | Grandfather - GC (70), grandfather – BT (NA), PC (NA), aunt - CGO (50), cousin - BC (54) |
28 | c.181 T > G | BBC (52/60) | NA | NA | NA | NA | NA | NA | OC (52) | Brother with bone cancer (47) |
37 | c.4603G > T | IDC (37) | - | - | - | pT1cN1M0 | G2 | II | FtC (41) | Grandfather - PC (76), grandfather - LC (69), grandmother - CRC (60) |
39 | c.5263_5264insC | BBC(37/55) | NA/- | NA/- | NA/- | NA | NA | NA | Uncle - PrC (66) | |
73 | c.5263_5264insC | IDLC (53) | - | - | - | pT2pN0M0 | G3 | II | Mother - BC (47) and CRC (71) | |
79 | c.5263_5264insC | IDC (42) | NA | NA | 1+ | NA | NA | NA | Grandmother - GC(70), mother – BBC (27/30), uncle – leukemia (67), grandmother - CLv (75) | |
99 | c.5263_5264insC | IDC (40) | NA | NA | NA | pT1N0M0 | G2 | NA | OC (46) | Grandmother – unknown cancer (>80), mother-CrC (NA), mother’s sister – Paget’s disease of the nipple (NA) |
111 | c.5263_5264insC | ACC (36) | - | - | - | NA | G1 | NA | No | |
121 | c.5263_5264insC | IDC (34) | - | - | - | pT1N0M0 | G3 | I | Father – pelvic cancer (NA), cousin - BC (30) | |
132 | c.181 T > G | IDC (39) | - | - | - | pT1pN0M0 | G2 | I | Grandmother - BC (60), mother -BBC (32/40) | |
134 | c.464delA | IDC (54) | - | - | - | pT1N1M0 | G3 | II | Aunt - BC (47), grandmother and grandmother’s sister - BC(NA), father - LC (NA) | |
140 | c.5263_5264insC | IDC (32) | 1+ | 2+ | 2+ | pT2pN0M0 | G2 | IIa | Mother - BBC (31/37), grandmother - EC, CRC (50/53), grandfather - LC (59), grandmother - BC (NA) | |
142 | c.5263_5264insC | IDC (31) | - | - | - | pT1pN0M0 | G2-3 | I | No | |
143 | c.5263_5264insC | IDC (51) | - | - | - | pT2N0M0 | G3 | I | OC (51) | Uncle - PC (68), grandmother LC (44), cousin - OC (37) |
152 | c.5263_5264insC | BBC (41) | NA | NA | NA | NA | NA | NA | OC (58) | Mother - BBC (NA) |
155 | c.5263_5264insC | BC (29) | - | - | - | NA | NA | NA | Grandmother - BC, ThC (50/70), cousin - BC (50), cousin - OC (48) | |
161 | c.5263_5264insC | IDC (43) | - | - | - | NA | NA | NA | Mother – OC (62) | |
164 | c.5263_5264insC | IDC (45) | - | - | - | NA | NA | NA | Mother - BC (NA) | |
171 | c.5263_5264insC | BC (53) | - | - | - | NA | NA | NA | OC (NA) | Grandmother - BC (43), mother - BC (53) and OC (63) |
175 | c.5263_5264insC | MBC (33) | - | - | - | pT1сN2M0 | G2 | II | No | |
194 | c.5030_5033 | IDC (63) | - | - | - | pT1N0M0 | G2 | NA | No | |
delCTAA | ||||||||||
190 | c.5263_5264insC | IDC (33) | - | - | - | pT1bpN0M0 | G2 | I | Grandmother - BC (47), mother - OC (52), grandfather - CRC (62) | |
204 | c.5263_5264insC | BBC (35/48) | NA | NA | NA | NA | NA | NA | Mother with bladder cancer in doubt | |
205 | c.5397_5403 | IDC (51) | - | - | - | pT1pN1M0 | G3 | II | Grandmother - BC (30), father – PC (NA) | |
delCCCTTGG |