Table 2.
PV status | Family history | Risk categories | Lifetime risk | Risk to age 50 | Ref fig. | ||||
RF | PRS | RF and PRS | RF | PRS | RF and PRS | ||||
Untested | NA | Population | 99.9 | 100.0 | 99.4 | 100.0 | 100.0 | 100.0 | Figure 2A, C and online supplemental figure S2A, C |
Moderate | 0.1 | 0.0 | 0.6 | 0.0 | 0.0 | 0.0 | |||
High | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | |||
M 50 | Population | 59.1 | 61.8 | 61.7 | 100.0 | 100.0 | 100.0 | Figure 2B, D and online supplemental figure S2B, D | |
Moderate | 40.3 | 38.2 | 37.1 | 0.0 | 0.0 | 0.0 | |||
High | 0.6 | 0.0 | 1.2 | 0.0 | 0.0 | 0.0 | |||
BRCA1 | NA | Population | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.3 | Figure 3A and online supplemental figure S3A |
Moderate | 0.0 | 0.0 | 0.0 | 1.5 | 0.1 | 4.1 | |||
High | 100.0 | 100.0 | 100.0 | 98.5 | 99.9 | 95.6 | |||
M 50 | Population | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | Figure 3B and online supplemental figure S3B | |
Moderate | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.2 | |||
High | 100.0 | 100.0 | 100.0 | 100.0 | 100.0 | 99.8 | |||
BRCA2 | NA | Population | 1.6 | 0.1 | 4.7 | 100.0 | 100.0 | 99.9 | Figure 3C and online supplemental figure S3C |
Moderate | 42.8 | 37.7 | 42.3 | 0.0 | 0.0 | 0.1 | |||
High | 55.6 | 62.2 | 52.9 | 0.0 | 0.0 | 0.0 | |||
M 50 | Population | 0.0 | 0.0 | 0.1 | 95.9 | 99.9 | 95.3 | Figure 3D and online supplemental figure S3D | |
Moderate | 1.9 | 0.1 | 4.7 | 4.0 | 0.1 | 4.5 | |||
High | 98.1 | 99.9 | 95.3 | 0.0 | 0.0 | 0.2 | |||
RAD51D | NA | Population | 0.6 | 0.0 | 2.1 | 100.0 | 100.0 | 99.8 | Figure 3E and online supplemental figure S3E |
Moderate | 24.5 | 18.3 | 30.8 | 0.0 | 0.0 | 0.2 | |||
High | 75.0 | 81.7 | 67.1 | 0.0 | 0.0 | 0.0 | |||
M 50 | Population | 0.0 | 0.0 | 0.0 | 93.5 | 99.6 | 92.6 | Figure 3F and online supplemental figure S3F | |
Moderate | 0.6 | 0.0 | 2.0 | 6.3 | 0.4 | 7.0 | |||
High | 99.4 | 100.0 | 98.0 | 0.2 | 0.0 | 0.4 | |||
RAD51C | NA | Population | 1.8 | 0.1 | 4.9 | 99.8 | 100.0 | 99.3 | Figure 3G and online supplemental figure S3G |
Moderate | 44.4 | 39.3 | 43.1 | 0.2 | 0.0 | 0.7 | |||
High | 53.7 | 60.6 | 52.0 | 0.0 | 0.0 | 0.0 | |||
M 50 | Population | 0.0 | 0.0 | 0.1 | 85.8 | 96.2 | 85.0 | Figure 3H and online supplemental figure S3H | |
Moderate | 2.0 | 0.1 | 5.0 | 13.6 | 3.8 | 13.7 | |||
High | 98.0 | 99.9 | 95.0 | 0.6 | 0.0 | 1.3 | |||
BRIP1 | NA | Population | 43.6 | 34.0 | 45.7 | 100.0 | 100.0 | 99.7 | Figure 3I and online supplemental figure 3I |
Moderate | 52.3 | 65.0 | 47.4 | 0.0 | 0.0 | 0.3 | |||
High | 4.1 | 1.0 | 6.9 | 0.0 | 0.0 | 0.0 | |||
M 50 | Population | 2.1 | 0.1 | 4.8 | 93.0 | 99.3 | 91.4 | Figure 3J and online supplemental figure 3J | |
Moderate | 43.5 | 38.9 | 44.5 | 6.8 | 0.7 | 8.1 | |||
High | 54.5 | 61.1 | 50.7 | 0.3 | 0.0 | 0.5 |
The ‘population’ risk category is defined as lifetime risk of <5% and risk to age 50 of <3%. ‘Moderate’ risk category is defined as a lifetime risk of 5% or greater but less than 10% and a risk to age 50 of 3% or greater but less than 5%. ‘High’ risk category is defined as a lifetime risk of 10% or greater and a risk to age 50 of 5% or greater. The population lifetime risk is 1.8%, and the population risk to age 50 is 0.27%
EOC, epithelial tubo-ovarian cancer; M 50, mother diagnosed with EOC at age 50; NA, unknown family history; PV, pathogenic variant.