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

Table 5 SNPs found to be associated with reduced breast cancer risk for BRCA2 pathogenic variants carriers

Gene	Locus	SNP	Sample size	Unaffected/ Affected		P-value	Genotyping platform	Function	Ref
RAD52	12p13.33	rs4987207	10 979	5374/5605	0.69 (0.56–0.86)	8.0 × 10^− 4	Illumina	DNA double-strand break repair	[9]
ZNF365	10q21.2	rs16917302	4188	2026/2162	0.75 (0.66–0.86)	3.8 × 10^− 5	Affymetrix, iPLEX	Regulation of gene expression, involvement in the cell cycle	[20]
ZNF365	10q21.2	rs10995190	7119	3315/3804	0.90 (0.82–0.98)	0.015	iPLEX	Regulation of gene expression, involvement in the cell cycle	[12]
ABL1	9q34.12	rs3808814	2693	1189/1504	0.71 (0.53–0.97)	0.030	Illumina, iPLEX	Tyrosine kinase activity	[28]
CYP1B1-AS1	2p22.2	rs184577	8211	3881/4330	0.85 (0.79–0.91)	3.6 × 10^− 6	iCOGS	IncRNA class, regulation of gene expression	[21]
TFAP2A	6p24	rs9348512	6214	3881/2333	0.85 (0.80–0.90)	3.9 × 10^− 8	iCOGS	Transcriptional regulation	[21]
LOC105376214	9q31.2	rs865686	7111	3312/3799	0.95 (0.89–1.01)	7.3 × 10^− 3	iPLEX	IncRNA class, regulation of gene expression	[12]
GMEB2	20q13.3	rs311499	4138	2001/2137	0.72 (0.61–0.85)	6.6 × 10^− 5	Affymetrix, iPLEX	Modulation of glucocorticoid receptors activity	[20]

ISSN: 1897-4287