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

Dwornik, Roksana; Białkowska, Katarzyna

doi:10.1186/s13053-025-00313-y

Hereditary Cancer in Clinical Practice

Table 4 SNPs found to be associated with higher breast cancer risk for BRCA2 pathogenic variants carriers

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

Gene	Locus	SNP	Sample size	Unaffected/ Affected	HR (95% CI)	P-value	Genotyping platform	Function	Ref
RAD51	15q15.1	rs1801320	2748	1174/1574	3.18 (1.39–7.27)	0.0004	TaqMan, RFLP-PCR	DNA repair through homologous recombination	[14]
TOX3/ TNRC9	16q12.1	rs3803662	3255	1426/1829	1.15 (1.03–1.27)	0.009	iPLEX, TaqMan	Chromatin remodelling	[15]
FGFR2	10q26.13	rs2981582	3260	1427/1833	1.32 (1.20–1.45)	1.7 × 10^− 8	iPLEX, TaqMan	Cell growth and differentiation	[15]
ALDH2	12q24.12	rs10744777	19 488	11,873/7615	1.72 (1.19–2.48)	0.003	TaqMan	Detoxification of acetaldehyde	[30]
LSP1	11p15.5	rs3817198	5434	2404/3030	1.16 (1.07–1.25)	2.8 × 10^− 4	iPLEX,, TaqMan	Immune cell signalling and adhesion	[13]
MAP3K1	5q11.2	rs889312	3524	1557/1967	1.12 (1.02–1.24)	0.020	iPLEX, TaqMan	Regulation of cell migration	[15]
LOC134997	6q22	rs9393597	2006	887/1119	1.55 (1.25–1.92)	6.0 × 10^− 5	Illumina	Non-coding RNA (IncRNA) family, regulation of gene expressions	[29]
FBXL7	5p15.1	rs12652447	2006	887/1119	1.37 (1.16–1.62)	1.7 × 10^− 4	Illumina	Regulation of protein degradation	[29]
SMAD3	15q22	rs3825977	2693	1189/1504	1.20 (1.03–1.40)	0.018	Illumina, iPLEX	TGF- β signalling pathway	[28]
SMAD3	15q22	rs7166081	2693	1189/1504	1.25 (1.07–1.45)	0.004	Illumina, iPLEX	TGF- β signalling pathway	[28]
EMBP1	1p11.2	rs11249433	6250	2827/3423	1.09 (1.02–1.17)	0.015	iPLEX,, TaqMan	IcnRNA class, regulation of gene expression	[11]
SLC4A7/ NEK10	3p22	rs4973768	6153	2783/3370	1.10 (1.03–1.18)	6.4 × 10^− 3	iPLEX, TaqMan	Ion transport, protein phosphorylation	[10]
FGF10/ MRPS30	5p12	rs10941679	5854	2591/3263	1.09 (1.01–1.19)	0.032	iPLEX TaqMan	Cell growth, regulation of mitochondrial function	[10]
ESR1	6q25.1	rs9397435	7117	3313/3804	1.14 (1.01–1.28)	0.031	iPLEX, TaqMan	Mediating the effect of the estrogen on various target tissues	[11]
FGF13	Xq27.1	rs619373	8207	3881/4326	1.30 (1.17–1.45)	3.1 × 10^− 6	iCOGS	Embryonic development, cell growth	[21]

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ISSN: 1897-4287

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