Table 3.

BRCA1/BRCA2 sequence variants of unknown significance and known polymorphisms in Indian Breast Cancer patients

Exon	Gene	NT	Base Change	Codon	AA Change	Designation	Variation type	BIC entry	Case(s) n = 204	A/S/Ra	Family History	Control(s) n = 140
1	BRCA1	22	C>G	5'UTR	-	22C>G	Transition UV	Novel	1 (0.49%)	35/F/H	NO	0
7	BRCA1	560	T>C	Non coding	-	IVS7+38 T>C	Transversion Intronic, UV	Novel	1 (0.49%)	30/F/H	NO	0
11a	BRCA1	790	delG	Non coding	-	IVS10-12delG	Deletion Intronic, UV	Reported	4 (1.96%)	35/F/H 35/F/H 35/F/H 31/F/H	NO NO NO NO	0
11d	BRCA1	3668	A>G	1183	Lys to Arg	K 1183 R	Polymorphism	Reported	16 (7.84%)	-	-	25 (20.8%)b
13	BRCA1	4476	T>C	Non coding	-	IVS13+2 T>C	Transversion Intronic, UV	Reported	1 (0.49%)	30/F/H	NO	0
16	BRCA1	4956	A>G	1613	Ser to Gly	S1613G	Polymorphism	Reported	1 (0.49%)	62/F/H	NO	2 (1.7%)b
16	BRCA1	5075	G>A	1652	Met to Ile	M1652I	Polymorphism	Reported	14 (6.86%)	-	-	10 (8.3%)b
17	BRCA1	5119 5154	A>G C>T	1667 1679	Lys to Arg Leu to Leu	K1667R 5154 C>T	Transversion, Missense UV Transversion Silent, UV	Novel Novel	1 (0.49%) 1 (0.49%)	35/F/H	Mother +Sister Br Ca	0 0
2	BRCA2	295	T>A	Non coding	-	IVS2+90 T>A	Transition Intronic, UV	Novel	1 (0.49%)	32/F/H	NO	0
7	BRCA2	859	A>T	Non coding	-	IVS 7+75A>T	Transition Intronic, UV	Novel	1 (0.49%)	32/F/H	NO	0
8	BRCA2	909	C>T	Non coding	-	IVS 8+56C>T	Transversion, Intronic, UV	Novel	1 (0.49%)	52/F/H	Grand-Mother Br Ca	0
10B	BRCA2	1593	A>G	455	Ser to Ser	1593A>G	Transversion Silent, UV	Reported	1 (0.49%)	48/F/H	NO	0
14	BRCA2	7470	A>G	2414	Ser to Ser	7470A>G	Polymorphism	Reported	24 (11.8%)	-	-	32 (26.7%)b
22	BRCA2	9079	G>A	2951	Ala to Thr	A2951T	Transition Missense	Reported	1 (0.49%)	40/F/H	NO	0
25	BRCA2	9729	insG	Non coding	-	IVS25+58InsG	Substitution Intronic, UV	Novel	3 (1.47%)	45/F/H 30/F/H 24/F/H	NO NO Sister Br Ca	0

^aA-age of diagnosis; S-sex; R-religion (H-Hindu; M-Muslim).

^bCarrier frequency calculated from 120 controls, UV – unclassified variant, Br Ca-Breast Cancer.