A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer

BMC Cancer

Table 2 BRCA1/2 mutations and polymorphisms in 4 Palestinian Arab women affected with breast (DNA no. 9–11) and/or ovarian cancer (DNA no. 8) identified using DHLPC and sequencing.

NO. OF DNA	Exon, Gene	NT	Codon	Base Cange	Mutation Type	Designation	AA Cange
8	12 BRCA1	4236	1373	G to T	Nonsense	E1373X	E to STOP
11	16 BRCA1	5075	1652	G to A	Missense-UV	M1652I	M to I
9	1BRCA1	-233 from 5UTR		g to a	IVS	-233 from 5UTR g/a
8	IVS6 BRCA1	IVS6 +62		t to c	IVS	IVS6 -62 t/c	IVS
9,10,11	IVS7 BRCA1	IVS7 -65		Del a		IVS7 -65 del a	IVS
9	11.3 BRCA1	1868	583	A toG	K to K	K583K	Silent
11	11.3 BRCA1	1955	612	G to A	R to R	R612R	Silent
9,10,11	11.4 BRCA1	2196	693	G to A	D to N	D693N	Missense -P
9,10,11	11.4 BRCA1	3001	694	C to T	S to S	S694S	Silent
9,10,11	11.5 BRCA1	2430	771	T to C	L to L	L771L	Silent
9,10,11	11.5 BRCA1	2731	871	C to T	P to L	P871L	Missense-P
8,9,10,11	11.7 BRCA1	3232	1038	A to G	E to G	E1038G	Missense-P
8,9	11.8 BRCA1	3667	1183	A to G	K to R	K1183R	Missense-P
9,10,11	13 BRCA1	4427	1436	T to C	S to S	S1436S	Silent
8,9,10,11	16 BRCA1	4956	1613	A to G	S to G	S1613G	Missense-P
8,9,10,11	IVS17 BRCA1	IVS17+66		g to a		IVS17 +66 g/a	IVS
8,9,11	2BRCA2	202		g to a		5UTR -27 g/a
11	IVS2 BRCA2	IVS2 -7		t to a		IVS2 -7 t/a	IVS
11	IVS8 BRCA2	IVS8 +56		c to t		IVS8 +56 c/t	IVS
8,10	10.2BRCA2	1342	372	A to C	H to N	H372N	Missense-P
8,9,10,11	11.4BRCA2	3624	1132	A to G	K to K	K1132K	Silent
9	11.5BRCA2	4035	1269	T to C	V to V	V1269V	Silent
8,9,10,11	14BRCA2	7470	2414	A to G	S to S	S2414S	Silent

ISSN: 1471-2407