| Ovarian cancer susceptibility |
| Geno
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Mag
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Summary
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| (C;C)
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0
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common in clinvar
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| (C;G)
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6
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Ovarian cancer susceptibility
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This is a genotype with recommended actions if clinically confirmed. In brief:
- Three genes (BRIP1, RAD51C and RAD51D) may contain mutations increasing risk of ovarian cancer; this genotype includes one such mutation.
- The lifetime risk of ovarian cancer in carriers of such mutations appears to be high enough to consider risk-reducing salpingo-oophorectomy (RRSO) surgery.
- It's unclear when the best time to consider such surgery is, but perhaps carriers of RAD51C, RAD51D, or BRIP1 pathogenic variants should consider RRSO around age 45–50 years or earlier based on a specific family history of an earlier onset ovarian cancer.
- While the relative risk of ovarian cancer is around 6x or 10x higher in RAD51C/D or BRIP1 mutation carriers relative to non-carriers, the cumulative lifetime risk appears to remain under 10% up to age 80 in the absence of family history.
- The decision to carry out RRSO should not be made lightly, given the impact of premature menopause and related issues such as surgical complications, worsening of vasomotor symptoms, and decreased sexual functioning.
The full ClinGen Actionability report about BRIP1, RAD51C, and RAD51D with respect to ovarian cancer can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
