From: Germline BRCA1/BRCA2 mutations among high risk breast cancer patients in Jordan
Test Result | Patients | Base change | AA change | Variant type | Interpretation | Age at diagnosis (Years) | Tumor histopathology | ER | PR | HER2 | Family history (Breast/ Ovarian cancer) (n) 1st deg. 2nd deg. 3rd deg | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRCA1 genetic variants | |||||||||||||
3450del4 | BRACA 029 | del4 | Stop 1115 | Deletion/Frame shift | Deleterious | 50 | IDC/GIII | -VE | -VE | -VE | 3 | 0 | 0 |
3954delG | BRACA 073 | delG | Stop 1306 | Deletion/Frame shift | Deleterious | 41 | IDC/GII | +VE | +VE | -VE | 2 | 0 | 0 |
3954delG | BRACA 096 | delG | Stop 1306 | Deletion/Frame shift | Deleterious | 37 | IDC/GIII | -VE | -VE | -VE | 0 | 1 | 0 |
3555del4 | BRACA 078 | del4 | Stop 1153 | Deletion/Frame shift | Deleterious | 29 | IDC/GIII | -VE | -VE | -VE | 1 | 0 | 0 |
E1373X (4236G > T) | BRACA 091 | G > T | E1373X | Nonsense | Deleterious | 44 | IDC/GIII | -VE | -VE | -VE | 1 | 1 | 0 |
IVS17 + 3 A > G | BRACA 086 | A > G | – | Intronic | Deleterious | 34 | IDC/GIII | -VE | -VE | -VE | 1 | 1 | 0 |
5149del4 | BRACA 094 | del4 | Stop 1678 | Deletion Frame shift | Deleterious | 33 | IDC/GIII | -VE | -VE | -VE | 1 | 1 | 0 |
E1478D (4553G > C)b | BRACA 066 | G > C | E1478D | Missense | VUS | 35 | IDC/GII | +VE | +VE | -VE | 1 | 2 | 2 |
E445Q (1452G > C) | BRACA 010 | G > C | E445Q | Missense | FP | 35 | IDC/GIII | +VE | +VE | +VE | 1 | 0 | 0 |
BRCA2 genetic variants | |||||||||||||
999del5 | BRACA 082 | del5 | Stop 273 | Deletion/Frame shift | Deleterious | 56 | IDC/GIII | -VE | -VE | -VE | 0 | 3 | 1 |
1461insA | BRACA 060 d | insA | Stop 420 | Insertion/Frame shift | Deleterious | 33 | IDC/GIII | -VE | -VE | -VE | 1 | 2 | 0 |
1461insA | BRACA 063 d | insA | Stop 420 | Insertion/Frame shift | Deleterious | 34 | ILC/GII | +VE | +VE | -VE | 1 | 2 | 0 |
2482del4 | BRACA 018 d | del4 | Stop 770 | Deletion/Frame shift | Deleterious | 48 | IDC/G UNK | +VE | +VE | -VE | 2 | 2 | 2 |
2482del4 | BRACA 070 d | del4 | Stop 770 | Deletion/Frame shift | Deleterious | 46 | IDC/GII | +VE | +VE | -VE | 1 | 2 | 4 |
2482del4 | BRACA 071 d | del4 | Stop 770 | Deletion/Frame shift | Deleterious | 46 | IDC/GIII | -VE | -VE | -VE | 1 | 2 | 4 |
2482del4 | BRACA 084 C | del4 | Stop 770 | Deletion/Frame shift | Deleterious | 30 | IDC/GII | +VE | +VE | -VE | 1 | 1 | 0 |
L2039X (6344 T > A) | BRACA 064 | T > A | L2039X | Nonsense | Deleterious | 44 | IDC/GII | +VE | +VE | -VE | 1 | 3 | 0 |
6855del8 | BRACA 049 | del8 | Stop 2221 | Deletion/Frame shift | Deleterious | 33 | IDC/GIII | +VE | +VE | -VE | 1 | 2 | 0 |
6862del4 | BRACA 041 | del4 | Stop 2227 | Deletion Frame shift | Deleterious | 42 | IDC/GIII | +VE | +VE | -VE | 2 | 0 | 0 |
E2229X (6913G > T) | BRACA 059 | G > T | E2229X | Nonsense | Deleterious | 37 | IDC/GIII | -VE | -VE | -VE | 1 | 2 | 1 |
E2229X (6913G > T) | BRACA 080 | G > T | E2229X | Nonsense | Deleterious | 29 | IDC/GIII | +VE | +VE | -VE | 1 | 0 | 0 |
IVS23-1G > A | BRACA 057 | G > A | – | Intronic | Deleterious | 51 | IDC/GIII | +VE | +VE | -VE | 3 | 2 | 0 |
IVS24-1G > A | BRACA 055 C, d | G > A | – | Intronic | Suspected Deleterious | 42 | IDC/GIII | +VE | +VE | -VE | 2 | 2 | 0 |
IVS24-1G > A | BRACA 061 C, d | G > A | – | Intronic | Suspected Deleterious | 55 | IDC/GIII | +VE | +VE | UNK | 2 | 2 | 0 |
IVS24-1G > A | BRACA 067 | G > A | – | Intronic | Suspected Deleterious | 32 | IDC/GIII | +VE | +VE | -VE | 0 | 2 | 0 |
dup exons 5–11(5′) a | BRACA 008 d | – | – | – | Suspected Deleterious | 25 | IDC/GIII | +VE | +VE | -VE | 1 | 1 | 0 |
dup exons 5–11(5′) a | BRACA 020 d | – | – | – | Suspected Deleterious | 50 | IDC/GII | +VE | +VE | -VE | 1 | 1 | 1 |
dup exons 5–11(5′) a | BRACA 047 | – | – | – | Suspected Deleterious | 37 | UNK | +VE | +VE | UNK | 3 | 1 | 0 |
dup exons 5–11(5′) a | BRACA 089 | – | – | – | Suspected Deleterious | 36 | IDC/GIII | +VE | +VE | -VE | 1 | 0 | 0 |
P168A (730C > G) | BRACA 093 | C > G | P168A | Missense | VUS | 36 | IDC/GI | +VE | +VE | -VE | 1 | 0 | 0 |
T251R (980C > G) | BRACA084 C | C > G | T251R | Missense | VUS | 30 | IDC/GII | +VE | +VE | -VE | 1 | 1 | 0 |
A2306P (7144G > C) | BRACA 035 | G > C | A2306P | Missense | VUS | 35 | IDC/GII | +VE | +VE | -VE | 0 | 1 | 0 |
Q2925R (9002A > G) | BRACA 053 | A > G | Q2925R | Missense | VUS | 52 | IDC/GI | +VE | +VE | -VE | 1 | 2 | 0 |
Q2925R (9002A > G) | BRACA 098 | A > G | Q2925R | Missense | VUS | 42 | IDC/GIII | -VE | -VE | +VE | 1 | 0 | 3 |
E2193K (6805G > A) | BRACA 099 | G > A | E2193K | Missense | VUS | 36 | IDC/GIII | -VE | -VE | -VE | 2 | 0 | 0 |
K21R (290A > G) | BRACA 043 | A > G | K21R | Missense | FP | 35 | IDC/GIII | +VE | +VE | -VE | 0 | 3 | 2 |
K3416E (10474A > G) | BRACA 055 C, d | A > G | K3416E | Missense | FP | 42 | IDC/GIII | +VE | +VE | -VE | 2 | 2 | 0 |
K3416E (10474A > G) | BRACA 061 C, d | A > G | K3416E | Missense | FP | 55 | IDC/GII | +VE | +VE | UNK | 2 | 2 | 0 |