Table 3.

SNPs found to be associated with Estrogen receptor status in breast cancer among BRCA1 and BRCA2 pathogenic variants carriers

BRCA1 mutation carriers							ER-positive		ER-negative
Gene	Locus	SNP	Sample size	Unaffected	ER+	ER-	HR (95% CI)	P	HR (95% CI)	P		Genotyping platform		Ref
BABAM1	19p13.1	rs8170	6844	4483	541	1820	1.12 (0.96–1.29)	0.15	1.23 (1.14–1.33)	2.0 × 10 − 7		iPLEX		[43]
BABAM1	19p13.1	rs67397200	6849	4486	542	1821	1.14 (1.01–1.30)	0.04	1.22 (1.14–1.30)	4.4 × 10 − 9		iPLEX		[43]
CASP8	2q33	rs1045485	60 128	36 976	17 805	5347	0.96 (0.93-1.00)	0.06	0.90 (0.84–0.96)	0.001		Illumina, iPLEX		[46]
LSP1	11p15.5	rs3817198	8628	3996	438	1435	1.07 (0.93–1.22)	0.33	1.07 (1.00-1.15)	0.047		iPLEX, TaqMan		[47]
BRCA2 mutation carriers
FGFR2	10q26.13	rs2981582	4738	2102	841	263	1.35 (1.23–1.48)	1.4 × 10 − 10	1.14 (0.97–1.35)	0.12		iPLEX, TaqMan		[47]
TOX3/ TNRC9	16q12.1	rs3803662	4563	2037	815	255	1.28 (1.16–1.41)	1.5 × 10 − 6	1.06 (0.88–1.29)	0.53		iPLEX, TaqMan		[47]
LSP1	11p15.5	rs3817198	5354	2332	1022	320	1.17 (1.07–1.28)	5.5 × 10 − 4	1.03 (0.81–1.22)	0.70		iPLEX, TaqMan		[47]
SLC4A7/NEK10	3p24.1	rs4973768	5669	2528	1108	329	1.13 (1.04–1.22)	0.0043	1.02 (0.88–1.19)	0.78		iPLEX, TaqMan		[47]