What is the most appropriate next step in managing a 55-year-old postmenopausal woman with a family history of ovarian cancer who is currently asymptomatic and has no known genetic testing?

Management of Asymptomatic Postmenopausal Woman with Family History of Ovarian Cancer

The most appropriate next step is counseling about ovarian cancer symptoms and referral for genetic counseling to assess for BRCA1/BRCA2 mutations or Lynch syndrome, NOT routine screening with pelvic ultrasound or CA-125. 1

Why Screening is NOT Recommended

Screening with CA-125 and/or pelvic ultrasound does not reduce ovarian cancer mortality, even in women with a family history of ovarian cancer. 1, 2

• The USPSTF gives a Grade D recommendation (recommends against) screening for ovarian cancer in asymptomatic women, including those with a family history, because the harms outweigh any potential benefits. 1, 2

• The landmark PLCO trial included 17% of participants with a family history of breast or ovarian cancer and showed no mortality benefit from screening with CA-125 and transvaginal ultrasound (118 vs. 100 deaths; relative risk 1.18). 1

• Outcomes were not separately reported for the family history subgroup, but the USPSTF found no reason to believe such women would necessarily benefit—a higher incidence may lead to more diagnoses and treatments without reducing deaths, potentially causing more harm. 1

Significant Harms of Screening

Screening causes substantial harm through false-positive results and unnecessary surgeries. 1, 2

• Approximately 10% of screened women receive false-positive results, with a positive predictive value of only 1-2%. 1, 2

• The ratio of surgeries to screen-detected ovarian cancer is approximately 20:1, meaning 20 women undergo surgery (often oophorectomy) for every one cancer detected. 1

• Nearly 21 major complications occur per 100 surgical procedures performed based on false-positive screening results. 1

• Per 10,000 women screened annually, 300 women without cancer are recalled for further testing (causing anxiety), and 20 undergo unnecessary surgery. 2

The Correct Approach: Risk Assessment and Genetic Counseling

Women with a family history of ovarian cancer should be assessed for genetic counseling eligibility, not subjected to routine screening. 1, 2

Criteria for High-Risk Family History:

• Two or more first- or second-degree relatives with ovarian cancer, or a combination of breast and ovarian cancer in the family. 1, 2

• For Ashkenazi Jewish women: one first-degree relative (or two second-degree relatives on the same side) with breast or ovarian cancer. 1, 2

When to Refer for Genetic Counseling:

• The USPSTF specifically recommends that women with a family history indicating risk for deleterious BRCA mutations be referred for genetic counseling and testing. 1

• This patient's family history warrants evaluation for BRCA1/BRCA2 mutations or Lynch syndrome, particularly if additional details suggest hereditary cancer syndrome (young age at diagnosis in relatives, multiple affected family members, Ashkenazi Jewish descent). 2

Symptom Education is Critical

Counseling about ovarian cancer symptoms is essential because early detection relies on clinical vigilance, not screening tests. 2, 3

Key Symptoms to Discuss:

• Abdominal or pelvic pain 2, 3

• Unexplained bloating or increased abdominal size 2, 3

• Early satiety 2

• Urinary urgency and frequency 3

• Unexplained weight loss 2

• Approximately 95% of patients with ovarian cancer experience these nonspecific symptoms at diagnosis, but about 80% already have advanced-stage disease (stage III-IV). 3

Risk-Reduction Strategies to Discuss

If genetic testing is negative or not pursued, discuss proven protective factors. 1, 2

• Oral contraceptive use (protective) 1, 2
• Pregnancy and breastfeeding history (protective) 1, 2
• Bilateral tubal ligation (protective) 1, 2
• Risk-reducing salpingo-oophorectomy (only for confirmed genetic mutation carriers) 2

Common Pitfalls to Avoid

• Do not order CA-125 or pelvic ultrasound as routine screening—this leads to false-positive results, unnecessary anxiety, and potentially harmful surgeries without mortality benefit. 1, 2

• Do not assume family history alone justifies screening—even in women with family history, screening trials showed no mortality benefit and significant harms. 1

• Do not delay genetic counseling referral—this is the evidence-based intervention for women with concerning family history, not imaging or tumor markers. 1, 2