Table 2. Prevalence of Pathogenic Variants (PVs) in US Black Women and Non-Hispanic White Women With Breast Cancer From Population-Based Studies in the CARRIERS Consortium.
Gene | Prevalence | Standardized prevalence ratiob (95% CI) | ||
---|---|---|---|---|
No. (%) | P valuea | |||
Black women (n = 3946) | Non-Hispanic White women (n = 25 287) | |||
ATM | 27 (0.68) | 211 (0.83) | .39 | 1.20 (1.05-1.38) |
BARD1 | 7 (0.18) | 41 (0.16) | .83 | 1.18 (0.87-1.60) |
BRCA1 | 41 (1.04) | 212 (0.84) | .20 | 1.37 (1.19-1.56) |
BRCA2 | 71 (1.80) | 313 (1.24) | .005 | 0.91 (0.81-1.01) |
CDH1 | 3 (0.08) | 13 (0.05) | .47 | 0.75 (0.43-1.32) |
CHEK2 | 15 (0.38) | 325 (1.29) | <.001 | 3.35 (3.01-3.74) |
NF1 | 4 (0.10) | 14 (0.06) | .29 | 0.74 (0.44-1.26) |
PALB2 | 40 (1.01) | 102 (0.40) | <.001 | 0.40 (0.33-0.48) |
PTEN | 1 (0.03) | 6 (0.02) | >.99 | NA |
RAD51C | 7 (0.18) | 29 (0.11) | .32 | 0.70 (0.48-1.01) |
RAD51D | 6 (0.15) | 15 (0.06) | .05 | 0.35 (0.21-0.59) |
TP53 | 3 (0.08) | 13 (0.05) | .47 | 1.87 (1.08-3.21) |
Totalc | 223 (5.65) | 1279 (5.06) | .12 | 1.08 (1.02-1.14) |
Abbreviations: CARRIERS, Cancer Risk Estimates Related to Susceptibility; NA, not analyzed because cell count <3.
Unadjusted Fisher exact test.
The standardized PV prevalence ratio comparing Non-Hispanic White women with Black women, with indirect adjustment for age at breast cancer diagnosis and 95% approximate exact CIs.
Total is defined as number of women with breast cancer who had at least 1 PV in 1 of these 12 genes.