Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants

Table 1 SNPs found to be associated with reduced breast cancer risk for BRCA1 pathogenic variants carriers

Gene	Locus	SNP	Sample size	Unaffected/ Affected	HR (95% CI)	P-value	Genotyping platform	Function	Ref
CASP8	2q33	rs1045485	4844	2241/2603	0.85 (0.76–0.97)	0.028	iPLEX, TaqMan	Cell apoptosis regulation	[39]
MTHFR	1p36	rs1801131	457	225/232	0.64 (0.51–0.80)	< 0.0001	RFLP-PCR	Metabolism of folate and regulation of homocysteine level	[22]
ANKLE1	19p13.11	rs2363956	7517	3367 ⁄ 4150	0.84 (0.80–0.89)	5.5 × 10^− 9	Illumina	DNA damage response	[16]
SNRPB	20p13	rs6138178	3451	1540/1911	0.78 (0.69–0.90)	3.6 × 10^− 4	Illumina	Component of spliceosome, involved in mRNA splicing	[29]
VEGF	6p21.3	rs3025039	457	225/232	0.63 (0.41–0.98)	0.042	PCR-RFLP	Angiogenesis induction	[23]
TERT	6q22.33	rs2180341	3361	1642/1719	0.89 (0.80-1.00)	0.048	TaqMan, iPLEX	Maintaining telomere length	[24]
PTHLH	12p11	rs10771399	12 558	6190/6368	0.87 (0.81–0.94)	3.2 × 10^− 4	iPLEX	Regulation of bone and cartilage development	[12]
BRCA1-wild type	17q21.31	rs16942	7048	3481/3567	0.86 (0.77–0.95)	0.003	TaqMan, iPLEX	DNA repair, cell cycle regulation, tumour suppressor	[19]

ISSN: 1897-4287