Table 2.
SNPs found to be associated with higher breast cancer risk for BRCA1 pathogenic variants carriers
| Gene | Locus | SNP | Sample size | Unaffected/ Affected |
HR (95% CI) | P-value | Genotyping platform | Function | Ref |
|---|---|---|---|---|---|---|---|---|---|
| PHB | 17q21 | rs6917 | 516 | 258/258 | 2.12 (1.23–3.70) | 0.006 | RFLP-PCR | Mitochondrial integrity, transcriptional modulation | [41] |
| CAMK1D | 10p3 | rs6602595 | 3451 | 1540/1911 | 1.25 (1.10–1.41) | 4.2 × 10− 4 | Illumina | Involvement in the calcium signalling pathway; neuronal signalling | [29] |
| IRS1 | 2q36 | rs1801278 | 577 | 231/346 | 1.86 (1.28–2.70) | 0.0011 | TaqMan, iPLEX | Involvement in insulin signalling, regulating glucose metabolism | [42] |
| BABAM1 | 19p13.1 | rs8170 | 11 669 | 3755/3870 | 1.20 (1.13–1.28) | 8.7 × 10− 9 | iPLEX | DNA repair-dependent chromatin remodelling | [43] |
| TERT | 5p15.33 | rs10069690 | 11,705 | 11,705* | 1.23 (1.16–1.29) | 1.6 × 10− 14 | iCOGS | Maintaining telomere length | [44] |
| TCF7L2 | 10q25.3 | rs11196174 | 14 346 | 7035/7311 | 1.13 (1.07–1.18) | 7.5 × 10− 7 | iCOGS, iPLEX | Influencing the transcription, especially in the Wnt signalling | [18] |
| MDM4 | 1q32 | rs2290854 | 14 350 | 7037/7313 | 1.13 (1.08–1.18) | 1.4 × 10− 7 | iCOGS, iPLEX | Inhibition of p53 activity | [18] |
| ESR1 | 6q25.1 | rs2046210 | 10 817 | 5302/5515 | 1.17 (1.11–1.23) | 4.5 × 10− 9 | iPLEX | Mediating the effect of the estrogen on various target tissues | [11] |
| ESR1 | 6q25.1 | rs9397435 | 12 575 | 6201/6374 | 1.28 (1.18–1.40) | 1.3 × 10− 8 | iPLEX | Mediating the effect of the estrogen on various target tissues | [11] |
| MTHFR | 1p36 | rs1801133 | 457 | 225/232 | 2.69 (1.80–4.02) | < 0.0001 | RFLP-PCR | Metabolism of folate and regulation of homocysteine level | [22] |
*No detailed information provided; this information concerns the total number of BRCA1 mutation carriers participating in the study without division into unaffected/affected