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Table 2 Genetic and histopathologic characteristic of Jordanian breast cancer patients with BRCA1 and BRCA2 genetic variants

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
  1. aThis mutation consist of a duplication of exons 5–10 of the BRCA2 gene; the 5′ end of BRCA2 exon 11 is also duplicated
  2. bAccording to Myriad Genetic Laboratories- variant information sheet, this is the first observation for this variant
  3. 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
  4. 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)
  5. AA Amino Acid, VUS variants of uncertain significance, FP favor polymorphism, IDC invasive ductal carcinoma, ILC invasive lobular carcinoma