Table 4 Clinical data of the carriers of damaging BRCA2 mutation carriers
From: Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients
BC№ | HGVSnomenclature | Diagnosis and age of onset | ER | PR | HER2 | TNM | Grade | Stage | Other cancer in patient | Family history of cancer and age of diagnosis |
|---|---|---|---|---|---|---|---|---|---|---|
19 | c.7910_7914 | BBC (31/37) | NA/ NA | NA/ NA | NA/ NA | NA/ NA | NA/ NA | NA | Cousin - BBC (41/49), father - GC (NA), aunt - OC (NA) | |
delCCTTT | ||||||||||
24 | c.9682delA | BBC (52) | NA | NA | NA | NA | NA | NA | NA | |
32 | c.9098_9099insA | IDC (50) | - | - | 3+ | NA | G3 | NA | Aunt – BC (NA) | |
52 | c.5946delT | BBC (41/68) | NA/ | NA/ | NA/ NA | NA/ NA | NA/ NA | NA | OC (59) | Mother - BC (36) sister - BC (46) and CRC (65), father - LC, ethnicity - Jewish |
3+ | 3+ | |||||||||
58 | c.5851_5854 | IDC (48) | 3+ | 3+ | 2+ | pT1N0Mx | G3 | NA | Mother – BC (NA), brother and sister of the mother – CRC (NA), her father – LC (NA), cousin – CRC (NA), a brother of the father – CLv (NA) and his children - BC (35) and - LC (50) | |
delAGTT | ||||||||||
76 | c.5851_5854 | IDLC (53) | - | - | - | pT1pN0M0 | G2 | NA | Cousin - BC (65), father - StC (54) | |
delAGTT | ||||||||||
81 | c.9098_9099insA | BC (59) | NA | NA | NA | NA | NA | NA | Sister - BC (52), aunt - BC (67) | |
85 | c.9098_9099insA | IDC (52) | 3+ | - | - | pT1pN2pMx | G3 | III | Aunt - BC (42), grandfather - head and neck cancer (NA) | |
87 | c.8532_8533 | BBC (30/37) | 3+/ | - | NA | pT1bpN0M0/ | G2/ | I/I | Mother BBC (NA) | |
delAA | 3+ | /3+ | /1+ | pT1bpN0M0 | NA | |||||
88 | c.9098_9099insA | IDLC (61) | - | - | - | pT2pN0M0 | G2-3 | Iia | Grandfather - ThC (48), mother - BC (60), two cousins - BC (34/47) | |
90 | c.5718_5719 | IDC (35) | 2+ | 3+ | 3+ | pT2pN2M0 | G2 | III | Grandfather - LyC (NA), grandmother - unclear malignant disease, most likely melanoma (NA) | |
delCT |