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] | ||