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. 2021 Nov 29;59(7):632–643. doi: 10.1136/jmedgenet-2021-107904

Table 2.

Percentage of women falling in different risk categories by status of PV in one of the high-risk or intermediate-risk genes included in the model and family history of cancer

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.