What screening tests are recommended for individuals with a family history of ovarian cancer?

Screening Tests for Individuals with a Family History of Ovarian Cancer

Individuals with a family history of ovarian cancer should undergo genetic counseling and testing for BRCA1/2 and other hereditary cancer genes, rather than routine ovarian cancer screening which is not recommended due to lack of mortality benefit. 1

Genetic Risk Assessment and Testing

Who Should Be Referred for Genetic Counseling

• Individuals with any of the following family history patterns:
  • Two or more first- or second-degree relatives with ovarian cancer
  • Combination of breast and ovarian cancer in the family
  • First-degree relative with ovarian cancer at any age
  • For Ashkenazi Jewish individuals: first-degree relative (or two second-degree relatives on the same side) with breast or ovarian cancer 1, 2

Genetic Testing Process

1. Initial genetic counseling: Discuss probability of finding mutations, implications for individual and family, and benefits/limitations of testing 1
2. Testing strategy:
   • Ideally test an affected family member first (e.g., relative with ovarian cancer) if available 1, 2
   • If no affected relatives are available, proceed with testing the individual directly 2
   • Testing should include at minimum BRCA1/2 genes, but comprehensive panel testing is increasingly recommended 1
   • For Ashkenazi Jewish individuals, begin with testing for the three founder mutations, then consider full sequencing if negative 1

Management Based on Genetic Testing Results

If Positive for BRCA1/2 or Other High-Risk Mutations

For women:

• Monthly breast self-examination starting at age 18
• Semi-annual clinical breast examination starting at age 25
• Annual mammogram and breast MRI starting at age 25 (or based on earliest onset in family)
• Consider risk-reducing mastectomy based on individual factors
• Risk-reducing salpingo-oophorectomy recommended between ages 35-40 after childbearing completion 1
• Consider chemoprevention options for breast and ovarian cancer

For men:

• Monthly breast self-examination
• Semi-annual clinical breast examination
• Consider baseline mammogram
• Follow prostate cancer screening guidelines 1

If Negative or No Mutation Identified

• The USPSTF explicitly recommends against routine ovarian cancer screening (transvaginal ultrasound and CA-125) in average-risk women, including those with family history but no genetic mutation 1
• This recommendation is based on evidence showing no mortality benefit and potential harms from unnecessary surgical interventions 1

Important Caveats and Considerations

• Despite having a family history of ovarian cancer, more than half of patients with BRCA1 mutations may have family histories that would be considered unremarkable 3
• Genetic testing has been historically underutilized - studies show that only 48% of eligible ovarian cancer patients were referred for genetic counseling as of 2007 4
• Approximately 25% of ovarian cancers are associated with hereditary factors, predominantly BRCA1/2 gene variants 5
• The 5-year survival rate for advanced ovarian cancer is significantly higher (approximately 70%) in patients with BRCA-related gene variants who receive PARP inhibitor treatment 5

Risk-Reducing Options

• Oral contraceptive use, pregnancy, breastfeeding, and bilateral tubal ligation are associated with reduced ovarian cancer risk 1
• Risk-reducing salpingo-oophorectomy is the most effective intervention for reducing ovarian cancer risk in high-risk individuals 1

Remember that while screening with transvaginal ultrasound and CA-125 is often requested, these tests have not been shown to reduce mortality from ovarian cancer and may lead to unnecessary surgeries and complications.