OC risk categorisation to ages 50 and 80 years for RAD51C, RAD51D, BRIP1 and PALB2 GPV carriers based on the multifactorial OC model67 implemented in CanRisk (A Antoniou, personal communication 2022, and adapted from data in Lee et al 32)
Gene | Considering OC risk to age 80 years | Considering OC risk to age 50 years | ||||||
Average risk to age 80 (%)* | % carriers in risk category† | Average risk to age 50 (%)* | % carriers in risk category† | |||||
<5% risk | 5%–10% risk | >10% risk | <3% risk | 3–5% risk | >5% risk | |||
(A) For an unaffected GPV carrier, unselected due to family history of OC | ||||||||
RAD51D | 13 | 2 | 33 | 65 | 0.9 | 99.9 | 0.1 | 0 |
RAD51C | 11 | 5 | 44 | 51 | 1.1 | 99.6 | 0.4 | 0 |
BRIP1 | 6 | 47 | 47 | 6 | 1 | 99.7 | 0.2 | 0 |
PALB2 | 5 | 62 | 35 | 3 | 0.8 | 100 | 0 | 0 |
(B) For a GPV carrier with a mother affected with OC, age 50 | ||||||||
RAD51D | 23 | 0 | 98 | 1.9 | 95.4 | 4.4 | 0.2 | |
RAD51C | 20 | 0.1 | 94.6 | 2.3 | 89.2 | 10.1 | 0.8 | |
BRIP1 | 11 | 5 | 49 | 2 | 91.6 | 7.9 | 0.5 | |
PALB2 | 10 | 11 | 33 | 1.5 | 97.5 | 2.4 | 0.1 |
*Average risk for a GPV carrier, based only on the GPV.
†Based on the multifactorial risk model, including questionnaire-based/clinical risk factors and polygenic risk score.
GPV, germline pathogenic variant; OC, ovarian cancer.