Germline BRCA1/BRCA2 mutations among high risk breast cancer patients in Jordan

Abdel-Razeq, Hikmat; Al-Omari, Amal; Zahran, Farah; Arun, Banu

doi:10.1186/s12885-018-4079-1

BMC Cancer

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

^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

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ISSN: 1471-2407

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