Frequency of pathogenic mutations in known or suspected breast cancer susceptibility genes and associations with breast cancer risk in African American women, in population-based studies*
| Gene . | Affected (n = 3916) . | Unaffected (n = 4925) . | . | . |
|---|---|---|---|---|
| No. of mutated alleles (mutation frequency, %) . | No. of mutated alleles (mutation frequency, %) . | OR†(95% CI) . | P‡ . | |
| ATM | 28 (0.72) | 16 (0.33) | 1.81 (0.97 to 3.48) | .067 |
| BARD1 | 7 (0.18) | 8 (0.16) | 0.98 (0.34 to 2.80) | .97 |
| BRCA1 | 41 (1.05) | 1 (0.02) | 42.79 (9.24 to >100) | <.001 |
| BRCA2 | 72 (1.84) | 12 (0.24) | 7.31 (4.08 to 14.29) | <.001 |
| BRIP1 | 6 (0.15) | 6 (0.12) | 1.14 (0.34 to 3.79) | .83 |
| CHEK2 | 15 (0.38) | 6 (0.12) | 3.17 (1.26 to 9.06) | .020 |
| ERCC3 | 13 (0.33) | 9 (0.18) | 2.35 (1.01 to 5.76) | .051 |
| FANCC | 16 (0.41) | 10 (0.20) | 2.24 (1.02 to 5.18) | .049 |
| FANCM | 11 (0.28) | 11 (0.22) | 1.17 (0.49 to 2.82) | .72 |
| NBN | 4 (0.10) | 9 (0.18) | 0.51 (0.13 to 1.63) | .28 |
| PALB2 | 39 (1.00) | 5 (0.10) | 8.37 (3.56 to 24.57) | <.001 |
| RAD51C | 7 (0.18) | 3 (0.06) | 2.95 (0.80 to 13.72) | .12 |
| RAD51D | 6 (0.15) | 2 (0.04) | 3.06 (0.67 to 21.50) | .18 |
| RECQL | 12 (0.31) | 5 (0.10) | 2.94 (1.07 to 9.37) | .047 |
| Total | 277 (7.07) | 103 (2.09) |
| Gene . | Affected (n = 3916) . | Unaffected (n = 4925) . | . | . |
|---|---|---|---|---|
| No. of mutated alleles (mutation frequency, %) . | No. of mutated alleles (mutation frequency, %) . | OR†(95% CI) . | P‡ . | |
| ATM | 28 (0.72) | 16 (0.33) | 1.81 (0.97 to 3.48) | .067 |
| BARD1 | 7 (0.18) | 8 (0.16) | 0.98 (0.34 to 2.80) | .97 |
| BRCA1 | 41 (1.05) | 1 (0.02) | 42.79 (9.24 to >100) | <.001 |
| BRCA2 | 72 (1.84) | 12 (0.24) | 7.31 (4.08 to 14.29) | <.001 |
| BRIP1 | 6 (0.15) | 6 (0.12) | 1.14 (0.34 to 3.79) | .83 |
| CHEK2 | 15 (0.38) | 6 (0.12) | 3.17 (1.26 to 9.06) | .020 |
| ERCC3 | 13 (0.33) | 9 (0.18) | 2.35 (1.01 to 5.76) | .051 |
| FANCC | 16 (0.41) | 10 (0.20) | 2.24 (1.02 to 5.18) | .049 |
| FANCM | 11 (0.28) | 11 (0.22) | 1.17 (0.49 to 2.82) | .72 |
| NBN | 4 (0.10) | 9 (0.18) | 0.51 (0.13 to 1.63) | .28 |
| PALB2 | 39 (1.00) | 5 (0.10) | 8.37 (3.56 to 24.57) | <.001 |
| RAD51C | 7 (0.18) | 3 (0.06) | 2.95 (0.80 to 13.72) | .12 |
| RAD51D | 6 (0.15) | 2 (0.04) | 3.06 (0.67 to 21.50) | .18 |
| RECQL | 12 (0.31) | 5 (0.10) | 2.94 (1.07 to 9.37) | .047 |
| Total | 277 (7.07) | 103 (2.09) |
Studies that did not preferentially enroll cases based on family history or age; studies included were Black Women’s Health Study, Cancer Prevention Study II, Cancer Prevention Study 3, California Teachers Study, Multiethnic Cohort, Women Circle of Health, and Wisconsin Women’s Health Study. CI = confidence interval.
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.
Two-sided P values from logistic regression analysis.
Frequency of pathogenic mutations in known or suspected breast cancer susceptibility genes and associations with breast cancer risk in African American women, in population-based studies*
| Gene . | Affected (n = 3916) . | Unaffected (n = 4925) . | . | . |
|---|---|---|---|---|
| No. of mutated alleles (mutation frequency, %) . | No. of mutated alleles (mutation frequency, %) . | OR†(95% CI) . | P‡ . | |
| ATM | 28 (0.72) | 16 (0.33) | 1.81 (0.97 to 3.48) | .067 |
| BARD1 | 7 (0.18) | 8 (0.16) | 0.98 (0.34 to 2.80) | .97 |
| BRCA1 | 41 (1.05) | 1 (0.02) | 42.79 (9.24 to >100) | <.001 |
| BRCA2 | 72 (1.84) | 12 (0.24) | 7.31 (4.08 to 14.29) | <.001 |
| BRIP1 | 6 (0.15) | 6 (0.12) | 1.14 (0.34 to 3.79) | .83 |
| CHEK2 | 15 (0.38) | 6 (0.12) | 3.17 (1.26 to 9.06) | .020 |
| ERCC3 | 13 (0.33) | 9 (0.18) | 2.35 (1.01 to 5.76) | .051 |
| FANCC | 16 (0.41) | 10 (0.20) | 2.24 (1.02 to 5.18) | .049 |
| FANCM | 11 (0.28) | 11 (0.22) | 1.17 (0.49 to 2.82) | .72 |
| NBN | 4 (0.10) | 9 (0.18) | 0.51 (0.13 to 1.63) | .28 |
| PALB2 | 39 (1.00) | 5 (0.10) | 8.37 (3.56 to 24.57) | <.001 |
| RAD51C | 7 (0.18) | 3 (0.06) | 2.95 (0.80 to 13.72) | .12 |
| RAD51D | 6 (0.15) | 2 (0.04) | 3.06 (0.67 to 21.50) | .18 |
| RECQL | 12 (0.31) | 5 (0.10) | 2.94 (1.07 to 9.37) | .047 |
| Total | 277 (7.07) | 103 (2.09) |
| Gene . | Affected (n = 3916) . | Unaffected (n = 4925) . | . | . |
|---|---|---|---|---|
| No. of mutated alleles (mutation frequency, %) . | No. of mutated alleles (mutation frequency, %) . | OR†(95% CI) . | P‡ . | |
| ATM | 28 (0.72) | 16 (0.33) | 1.81 (0.97 to 3.48) | .067 |
| BARD1 | 7 (0.18) | 8 (0.16) | 0.98 (0.34 to 2.80) | .97 |
| BRCA1 | 41 (1.05) | 1 (0.02) | 42.79 (9.24 to >100) | <.001 |
| BRCA2 | 72 (1.84) | 12 (0.24) | 7.31 (4.08 to 14.29) | <.001 |
| BRIP1 | 6 (0.15) | 6 (0.12) | 1.14 (0.34 to 3.79) | .83 |
| CHEK2 | 15 (0.38) | 6 (0.12) | 3.17 (1.26 to 9.06) | .020 |
| ERCC3 | 13 (0.33) | 9 (0.18) | 2.35 (1.01 to 5.76) | .051 |
| FANCC | 16 (0.41) | 10 (0.20) | 2.24 (1.02 to 5.18) | .049 |
| FANCM | 11 (0.28) | 11 (0.22) | 1.17 (0.49 to 2.82) | .72 |
| NBN | 4 (0.10) | 9 (0.18) | 0.51 (0.13 to 1.63) | .28 |
| PALB2 | 39 (1.00) | 5 (0.10) | 8.37 (3.56 to 24.57) | <.001 |
| RAD51C | 7 (0.18) | 3 (0.06) | 2.95 (0.80 to 13.72) | .12 |
| RAD51D | 6 (0.15) | 2 (0.04) | 3.06 (0.67 to 21.50) | .18 |
| RECQL | 12 (0.31) | 5 (0.10) | 2.94 (1.07 to 9.37) | .047 |
| Total | 277 (7.07) | 103 (2.09) |
Studies that did not preferentially enroll cases based on family history or age; studies included were Black Women’s Health Study, Cancer Prevention Study II, Cancer Prevention Study 3, California Teachers Study, Multiethnic Cohort, Women Circle of Health, and Wisconsin Women’s Health Study. CI = confidence interval.
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.
Two-sided P values from logistic regression analysis.
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