Table 2.
Frequency of pathogenic mutations in known or suspected breast cancer susceptibility genes and associations with breast cancer risk in African American women
| Gene | Affected (n = 5054) |
Unaffected (n = 4993) |
||
|---|---|---|---|---|
| No. of mutated alleles (mutation frequency, %) | No. of mutated alleles (mutation frequency, %) | OR* (95% CI) | P † | |
| ATM | 39 (0.77) | 16 (0.32) | 1.81 (1.00 to 3.44) | .058 |
| BARD1 | 7 (0.14) | 8 (0.16) | 0.78 (0.26 to 2.27) | .64 |
| BRCA1 | 81 (1.60) | 1 (0.02) | 47.55 (10.43 to >100) | <.001 |
| BRCA2 | 98 (1.94) | 12 (0.24) | 7.25 (4.07 to 14.12) | <.001 |
| BRIP1 | 9 (0.18) | 6 (0.12) | 1.24 (0.42 to 3.95) | .70 |
| CDH1 | 4 (0.08) | 2 (0.04) | 1.53 (0.27 to 12.02 | .64 |
| CDKN2A | 1 (0.02) | — | —‡ | — |
| CHEK2 | 19 (0.38) | 6 (0.12) | 3.23 (1.31 to 9.16) | .016 |
| ERCC3 | 14 (0.28) | 9 (0.18) | 2.40 (1.04 to 5.86) | .044 |
| FANCC | 21 (0.42) | 10 (0.20) | 2.03 (0.93 to 4.69) | .084 |
| FANCM | 13 (0.26) | 11 (0.22) | 1.14 (0.48 to 2.72) | .76 |
| MLH1 | — | 1 (0.02) | — | — |
| MSH2 | — | — | — | — |
| MRE11A | 2 (0.04) | 3 (0.06) | — | — |
| MSH6 | 4 (0.08) | 2 (0.04) | 1.77 (0.31 to 13.74) | .53 |
| NBN | 7 (0.14) | 10 (0.20) | 0.58 (0.20 to 1.59) | .29 |
| NF1 | 6 (0.12) | 1 (0.02) | — | — |
| PALB2 | 53 (1.05) | 5 (0.10) | 8.54 (3.67 to 24.95) | <.001 |
| PTEN | — | — | — | — |
| RAD51C | 9 (0.18) | 3 (0.06) | 3.00 (0.86 to 13.85) | .11 |
| RAD51D | 8 (0.16) | 2 (0.04) | 2.85 (0.66 to 19.90) | .21 |
| RECQL | 16 (0.32) | 5 (0.10) | 3.04 (1.15 to 9.54) | .036 |
| TP53 | 5 (0.10) | 1 (0.02) | — | — |
| Total | 416 (8.23) | 114 (2.28) |
*
Odds ratios (ORs) adjusted for study design, age, and first-degree family history of breast cancer. Reference group is women who have no mutations in the given gene. CI = confidence interval.
†
Two-sided P values from logistic regression analysis.
‡
ORs not calculated because of small numbers of mutations.