Table 2.
Genetic and histopathologic characteristic of Jordanian breast cancer patients with BRCA1 and BRCA2 genetic variants
| 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 |
aThis mutation consist of a duplication of exons 5–10 of the BRCA2 gene; the 5′ end of BRCA2 exon 11 is also duplicated
bAccording to Myriad Genetic Laboratories- variant information sheet, this is the first observation for this variant
CPatients 055 & 061 had both a suspected deleterious variant and a favor polymorphism variant; patient 084 had both a deleterious variant and variant of uncertain significance
dThe following patients are relatives: Patients 055 & 061 (sisters), patients 060 & 063 (sisters), patients 008 & 020 (second degree relatives) and patients 18, 70 & 71 (first and third degree relatives)
AA Amino Acid, VUS variants of uncertain significance, FP favor polymorphism, IDC invasive ductal carcinoma, ILC invasive lobular carcinoma