Table 5.
Representative Cancer Penetrances by Age 70 Years: Baseline Risk and Modified Risk in Mutation Group
| Gene | Cancer Site | Statistically Significant Mutation-Specific Relative Risk | Mutation Groups Corresponding to These Relative Risks, Tables 2–3 (Group No.) | Mutation Prevalence, %a (EMBRACE Data) | Overall Penetrance to Age 70 Years, % (BOADICEA) | Mutation-Specific Penetrance to Age 70 Years, % (95% CI) |
|---|---|---|---|---|---|---|
| BRCA1 | Breast | 1.4 | All founder mutations (5) | 16 | 59 | 69 (56–83) |
| Ovary | 0.7 | All founder mutations (5) | 16 | 34 | 26 (10–43) | |
| BRCA2 | Breast | 0.7 | Truncating mutations within the BRC domains (Table 3) | 11 | 51 | 40 (27–54) |
| Ovary | 0.3 | Not PTC (2) | 0.6 | 11 | 3 (0–38) |
a
Defined as the proportion of heterozygous mutation carriers with this mutation class with the specified cancer and BRCA1 or BRCA2 mutation in the EMBRACE data set.