Table 3. Prevalence of Pathogenic Variants (PVs) in Black and Non-Hispanic White Women With Breast Cancer From Population-Based Studies in the CARRIERS Consortium by Estrogen Receptor (ER) Status and in Cases Diagnosed at Age <50 Years.
| Gene | ER negative | ER positive | Triple negative | Age at breast cancer diagnosis <50 y | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No. (%) | P valuea | No. (%) | P valuea | No. (%) | P valuea | No. (%) | P valuea | |||||
| Black women (n = 981) | Non-Hispanic White women (n = 2426) | Black women (n = 2375) | Non-Hispanic White women (n = 13 939) | Black women (n = 466) | Non-Hispanic White women (n = 894) | Black women (n = 1155) | Non-Hispanic White women (n = 3415) | |||||
| ATM | 4 (0.41) | 12 (0.49) | >.99 | 18 (0.76) | 123 (0.88) | .63 | 0 | 5 (0.56) | .17 | 10 (0.87) | 51 (1.49) | .14 |
| BARD1 | 3 (0.31) | 8 (0.33) | >.99 | 3 (0.13) | 16 (0.11) | .75 | 3 (0.64) | 3 (0.34) | .42 | 2 (0.17) | 6 (0.18) | >.99 |
| BRCA1 | 30 (3.06) | 79 (3.26) | .83 | 9 (0.38) | 55 (0.39) | >.99 | 18 (3.86) | 46 (5.15) | .35 | 28 (2.42) | 103 (3.02) | .36 |
| BRCA2 | 26 (2.65) | 49 (2.02) | .25 | 37 (1.56) | 147 (1.05) | .04 | 10 (2.15) | 18 (2.01) | .84 | 35 (3.03) | 88 (2.58) | .40 |
| CDH1 | 2 (0.20) | 1 (0.04) | .20 | 1 (0.04) | 11 (0.08) | >.99 | 1 (0.21) | 0 | .34 | 1 (0.09) | 4 (0.12) | >.99 |
| CHEK2 | 2 (0.20) | 17 (0.70) | .12 | 11 (0.46) | 189 (1.36) | <.001 | 1 (0.21) | 7 (0.78) | .28 | 5 (0.43) | 62 (1.82) | <.001 |
| NF1 | 1 (0.10) | 1 (0.04) | .49 | 3 (0.13) | 6 (0.04) | .13 | 1 (0.21) | 0 | .34 | 1 (0.09) | 2 (0.06) | >.99 |
| PALB2 | 18 (1.83) | 23 (0.95) | .04 | 13 (0.55) | 47 (0.34) | .14 | 13 (2.79) | 11 (1.23) | .05 | 11 (0.95) | 17 (0.50) | .12 |
| PTEN | 0 | 0 | NA | 0 | 2 (0.01) | .14 | 0 | 0 | NA | 1 (0.09) | 4 (0.12) | >.99 |
| RAD51C | 2 (0.20) | 6 (0.25) | >.99 | 4 (0.17) | 9 (0.06) | .11 | 1 (0.21) | 2 (0.22) | >.99 | 4 (0.35) | 5 (0.15) | .24 |
| RAD51D | 4 (0.41) | 2 (0.08) | .06 | 2 (0.08) | 8 (0.06) | .65 | 1 (0.21) | 0 | .34 | 2 (0.17) | 3 (0.09) | .61 |
| TP53 | 0 | 2 (0.08) | >.99 | 3 (0.13) | 5 (0.04) | .10 | 0 | 2 (0.22) | .55 | 3 (0.26) | 6 (0.18) | .70 |
| Totalb | 91 (9.28) | 196 (8.08) | .28 | 104 (4.38) | 610 (4.38) | >.99 | 48 (10.30) | 91 (10.18) | >.99 | 102 (8.83) | 343 (10.04) | .25 |
Abbreviations: CARRIERS, Cancer Risk Estimates Related to Susceptibility; NA, not applicable.
a
Unadjusted Fisher exact test.
b
Total is defined as number of women with breast cancer who had at least 1 PV in 1 of these 12 genes.