Table 3.
Associations with ovarian cancer risk in BRCA1 and BRCA2 mutation carriers for SNPs observed at p < 10−2
| Locations | Positions | SNPs | Nearest genes | Unaffected (number) | Affected (number) | Unaffected (MAF) | HR* (95 % CI) | p values |
|---|---|---|---|---|---|---|---|---|
| BRCA1 mutation carriers | ||||||||
| 1p36.12 | 21,889,340 | rs1767429 | ALPL, RAP1GAP | 12,765 | 2460 | 0.42 | 1.092 (1.024–1.164) | 9 × 10−3 |
| 1p36.12 | 21,892,479 | rs12025623 | ALPL, RAP1GAP | 12,789 | 2460 | 0.36 | 1.098 (1.027–1.173) | 7 × 10−3 |
| 6p21.32 | 32,913,246 | rs1480380 | BRD2, HLA-DMB, HLA-DMA | 12,790 | 2462 | 0.07 | 1.178 (1.041–1.333) | 9 × 10−3 |
| 10p12.1 | 27,434,716 | rs788209 | ANKRD26, YME1L1, MASTL, ACBD5 | 12,754 | 2455 | 0.15 | 0.879 (0.804–0.961) | 5 × 10−3 |
| 17p13.1 | 8,071,592 | rs3027247 | MIR3676, C17orf59, AURKB, C17orf44, C17orf68, PFAS | 12,786 | 2461 | 0.29 | 0.905 (0.844–0.970) | 5 × 10−3 |
| 17q22 | 53,032,425 | rs17817865 | MIR4315-1, TOM1L1, COX11, STXBP4 | 12,790 | 2462 | 0.27 | 0.905 (0.842–0.971) | 8 × 10−3 |
| BRCA2 mutation carriers | ||||||||
| 1p32.22 | 11,735,652 | rs2233025 | MAD2L2, FBXO6 | 7574 | 631 | 0.18 | 0.777 (0.657–0.919) | 5 × 10−3 |
| 9p13.3 | 35,055,669 | rs595429 | VCP, FANCG, c9orf131 | 7579 | 631 | 0.46 | 0.856 (0.758–0.964) | 6 × 10−3 |
| 17q25.3 | 76,219,783 | rs2239680 | DHX29, SKIV2L2 | 7579 | 630 | 0.28 | 0.828 (0.722–0.948) | 7 × 10−3 |
CI confidence interval, HR hazard ratio, MAF minor allele frequency, SNP single-nucleotide polymorphism
* Hazard ratio per allele (one degree of freedom) estimated from the retrospective likelihood analysis