Table 2.
Observed BRCA1 variants in breast cancer cases diagnosed before age 40 in the ABCFS.
| Variant | rs number | Codon | MAF | HWE | Deleterious mutation? |
|---|---|---|---|---|---|
| 188 del 11 | C24X | 0.001 | 1.000 | Yes | |
| 189 del 11 | 0.003 | 1.000 | Yes | ||
| 546 G > T | E143X | 0.001 | 1.000 | Yes | |
| 1186 A > G | rs1799950 | Q356R | 0.056 | 0.557 | No |
| 1876 del C | 0.001 | 1.000 | Yes | ||
| 2196 G > A | rs4986850 | D693N | 0.060 | 0.461 | No |
| 2201 C > T | rs1799949 | S694S | 0.227 | 0.000 | No |
| 2430 T > C | rs16940 | L771L | 0.218 | 0.000 | No |
| 2594 del C | 0.001 | 1.000 | Yes | ||
| 2731 C > T | rs799917 | P871L | 0.231 | 0.000 | No |
| 2800 del AAG | 0.001 | 1.000 | Yes | ||
| 3232 A > G | rs16941 | E1038G | 0.195 | 0.000 | No |
| 3415 del C | 0.001 | 1.000 | Yes | ||
| 3667 A > G | rs16942 | K1183R | 0.231 | 0.000 | No |
| 3875 del GTCT | 0.001 | 1.000 | Yes | ||
| 3888 del GAG | 0.001 | 1.000 | Yes | ||
| 4184 del TCAA | 0.003 | 1.000 | Yes | ||
| 4427 T > C | rs1060915 | S1436S | 0.231 | 0.000 | No |
| 4446 C > T | rs41293455 | R1443X | 0.001 | 1.000 | Yes |
| 4808 C > G | Y1563X | 0.001 | 1.000 | Yes | |
| 4956 A > G | rs1799966 | S1613G | 0.237 | 0.000 | No |
| 5382 ins C | 0.003 | 1.000 | Yes |