Table 3 Association results for the lead variants within ±500 Kb regions of the 13 putative breast cancer risk genes identified in this study, results from the African-ancestry Breast Cancer Genetic Study
Breast cancer subtype | Gene | Lead variant | Cytoband | Position (hg38) | Allelea | EAFb | OR (95% CI) | P value |
|---|---|---|---|---|---|---|---|---|
Overall | CTD-3080P12.3 | rs10069690 | 5p15.33 | 1279675 | T/C | 0.59 | 1.14 (1.11, 1.18) | 1.07 × 10−16 |
TET2 | rs61751053 | 4q24 | 105613442 | T/C | 0.01 | 1.49 (1.30, 1.70) | 1.07 × 10−8 | |
BRD9 | rs10069690 | 5p15.33 | 1279675 | T/C | 0.59 | 1.14 (1.11, 1.18) | 1.07 × 10−16 | |
NUP210L | rs1411273 | 1q21.3 | 153629959 | T/G | 0.71 | 1.08 (1.05, 1.12) | 5.00 × 10−6 | |
ER-negative | EN1 | rs76664032 | 2q14.2 | 118823485 | A/G | 0.81 | 1.22 (1.15, 1.30) | 1.37 × 10−9 |
LINC01956 | rs76664032 | 2q14.2 | 118823485 | A/G | 0.81 | 1.22 (1.15, 1.30) | 1.37 × 10−9 | |
CTD-3080P12.3 | rs10069690 | 5p15.33 | 1279675 | T/C | 0.59 | 1.30 (1.23, 1.37) | 1.71 × 10−24 | |
BRD9 | rs10069690 | 5p15.33 | 1279675 | T/C | 0.59 | 1.30 (1.23, 1.37) | 1.71 × 10−24 | |
TET2 | rs57478337 | 4q24 | 105645241 | A/G | 0.02 | 1.39 (1.16, 1.67) | 3.38 × 10−4 | |
TNBC | EN1 | rs76664032 | 2q14.2 | 118823485 | A/G | 0.80 | 1.30 (1.20, 1.42) | 3.51 × 10−10 |
LINC01956 | rs76664032 | 2q14.2 | 118823485 | A/G | 0.80 | 1.30 (1.20, 1.42) | 3.51 × 10−10 | |
MRPL34 | rs12974508 | 19p13.1 | 17290712 | T/C | 0.41 | 0.73 (0.68, 0.77) | 1.29 × 10−23 | |
BRD9 | rs10069690 | 5p15.33 | 1279675 | T/C | 0.59 | 1.38 (1.30, 1.48) | 7.31 × 10−24 |
