Table 2.
Estimated average 5 year and lifetime breast-cancer risks for women with moderate-penetrance mutations in selected genes
| Age (years) |
Population |
ATM/NBN (RR 2.7–2.8)* |
CHEK2(1100delC) (RR 3.0)‡ |
CHEK2(I157T) (RR 1.58) |
PALB241 | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| 5-year (%) |
Cumulative (%) |
5-year (%) |
Cumulative (%) |
5-year (%) |
Cumulative (%) |
5-year (%) |
Cumulative (%) |
5 year (%) |
Cumulative (%) |
|
| 25–29 | 0.04 | 0.1 | 0.12 | 0.1 | 0.13 | 0.2 | 0.07 | 0.1 | 0.35 | 0.4 |
| 30–34 | 0.14 | 0.2 | 0.38 | 0.5 | 0.41 | 0.6 | 0.21 | 0.3 | 1.05§ | 2 |
| 35–39 | 0.30 | 0.5 | 0.84 | 1.4 | 0.90 | 1.5 | 0.48 | 0.8 | 2.5║ | 4 |
| 40–44 | 0.61 | 1.1 | 1.70§ | 3.0 | 1.83§ | 3.2 | 0.96§ | 1.7 | 4.25║ | 8 |
| 45–49 | 0.94§ | 2.0 | 2.64║ | 5.6 | 2.83║ | 5.9 | 1.49§ | 3.2 | 6.35║ | 14 |
| 50–54 | 1.12§ | 3.1 | 3.14║ | 8.5 | 3.36║ | 9.1 | 1.77§ | 4.9 | 8.00║ | 20 |
| 55–59 | 1.33§ | 4.4 | 3.71║ | 11.8 | 3.98║ | 12.6 | 2.09§ | 6.8 | 7.25║ | 26 |
| 60–64 | 1.72§ | 6.0 | 4.81║ | 16.0 | 5.15║ | 17.0 | 2.71║ | 9.3 | 7.35║ | 31 |
| 65–69 | 2.11§ | 8.0 | 5.92║ | 20.8 | 6.34║ | 22.1 | 3.34║ | 12.3 | 5.95║ | 35 |
| 70–75 | 2.20║ | 10.0 | 6.17║ | 25.5 | 6.61║ | 27.1 | 3.48║ | 15.3 | 6.70║ | 40 |
| CLTR (80) | NA | 12.0 | NA | 30.0 | NA | 31.8 | NA | 18.3 | NA | 44 |
These data represent the estimated cumulative 5 year incidence of breast cancer associated with moderate penetrance mutations with established clinical validity (based on the method of Song et al28) CLTR, cumulative lifetime risk; NA, not applicable; RR, relative risk.
ATM CLTR (80 years) estimated to be 27.1% with a RR of 5.0 up to age 50 years and then 2.0 thereafter (based on data from Thompson et al31). Data for NBN derived from study of a single truncating mutation.
CHEK2 truncating mutation CLTR (80) estimated to be 23.4% if RR declines with age (according to the CHEK2 Breast Cancer Case–Control Consortium40).
Indicates the age ranges at which 5 year risk approaches or exceeds 1% (the approximate population risk of breast cancer among US woman aged 45 years).
Indicates the age ranges at which the 5 year risk of breast cancer exceeds 2.2% (the highest risk estimated for US women in the general population, specifically, those aged between 70–79 years).