Management of Asymptomatic Postmenopausal Woman with Family History of Ovarian Cancer
Rationale Against Routine Screening
- The USPSTF recommends against screening asymptomatic women without known genetic mutations for ovarian cancer using transvaginal ultrasound or CA-125 testing, as it does not decrease ovarian cancer mortality and leads to unnecessary major surgical interventions (Grade D recommendation) 1
- Annual screening with transvaginal ultrasonography and serum CA-125 testing in women does not decrease ovarian cancer mortality, and the harms of screening outweigh any potential benefits 1
The Correct Approach: Genetic Risk Assessment
- Women with a family history of ovarian cancer should be considered for genetic counseling to evaluate their potential risks, particularly if they have two or more first- or second-degree relatives with a history of ovarian cancer or a combination of breast and ovarian cancer 1
- The National Comprehensive Cancer Network recommends genetic testing for individuals with a first- or second-degree blood relative meeting specific criteria, including family members with epithelial ovarian/fallopian tube/primary peritoneal cancer 3, 4
- Initial genetic testing should ideally be performed on an affected family member who has the highest likelihood of carrying a mutation, and if the affected relative tests positive for a mutation, then the patient can undergo targeted testing for that specific familial mutation 5
Importance of Genetic Counseling and Testing
- Genetic counseling with discussion of BRCA1/BRCA2 testing should be provided if the patient meets criteria based on family history assessment, as approximately 10% of ovarian cancers occur in association with BRCA1/BRCA2 mutations 2, 3
- The American College of Physicians and other organizations emphasize the importance of genetic counseling before ordering genetic testing, as informed consent and proper interpretation of results require expert guidance 2, 7, 6
Management of BRCA Mutation Carriers
- If genetic testing identifies a deleterious BRCA1/BRCA2 mutation, the patient should be offered enhanced surveillance with breast MRI and mammography starting at age 25-30, and risk-reducing salpingo-oophorectomy (RRSO) typically recommended between ages 35-40 after childbearing is complete for BRCA1 carriers, and ages 40-45 for BRCA2 carriers 5