Risk Assessment and Management for Family History of Two Ovarian Cancer Cases
Having two family members with ovarian cancer places you in a high-risk category that warrants genetic counseling and potential BRCA testing, but does NOT warrant routine screening with CA-125 or transvaginal ultrasound. 1
Understanding Your Risk Level
Your family history meets the threshold for "increased-risk family history," defined as having two or more first- or second-degree relatives with ovarian cancer or a combination of breast and ovarian cancer. 1 This pattern suggests possible hereditary cancer syndrome, though most ovarian cancer (90%) is still sporadic rather than hereditary. 2
Key distinction: While you have elevated risk compared to the general population, approximately 10% of all epithelial ovarian cancers are hereditary, with BRCA1/BRCA2 mutations accounting for about 90% of hereditary cases. 2 The remaining hereditary cases are primarily associated with Lynch syndrome (hereditary nonpolyposis colorectal cancer). 1, 2
Why Screening Is NOT Recommended Despite Family History
The USPSTF gives a Grade D recommendation (harms outweigh benefits) against screening for ovarian cancer even in women with family history. 3, 4 This recommendation is based on compelling evidence:
The PLCO trial of 78,216 women (17% with family history of ovarian or breast cancer) showed no mortality benefit from annual CA-125 and transvaginal ultrasound screening, with actually MORE deaths in the screened group (118 vs 100 deaths, relative risk 1.18). 3
Approximately 10% of screened women receive false-positive results with only 1-2% positive predictive value. 3
One-third of women with false-positives undergo unnecessary oophorectomy, resulting in a 20:1 ratio of surgeries to screen-detected cancers. 3
Nearly 21 major complications occur per 100 surgical procedures performed for false-positive results. 3
Critical caveat: The trial did not separately report outcomes for the family history subgroup, but the USPSTF found no reason to believe such women would necessarily benefit, as higher cancer incidence may lead to more diagnoses without reducing deaths and may actually cause more harms. 1
The Correct Management Approach: Genetic Counseling
You should be referred for genetic counseling to evaluate whether genetic testing is appropriate. 1, 4 This is the evidence-based pathway rather than screening tests.
Genetic Counseling Process:
Detailed family history assessment will determine if you meet criteria for BRCA1/BRCA2 or Lynch syndrome testing. 4
If Ashkenazi Jewish descent: The threshold is lower—one first-degree relative or two second-degree relatives on the same side of the family with breast or ovarian cancer is sufficient for referral. 1, 3
Ideally, testing should start with an affected family member who has the highest likelihood of carrying a mutation; if that relative tests positive, you can undergo targeted testing for that specific familial mutation. 4
If BRCA Mutation Is Identified:
Management changes entirely if you carry a BRCA mutation: 1, 4
Risk-reducing salpingo-oophorectomy (RRSO) is recommended between ages 35-40 after childbearing completion for BRCA1 carriers, and ages 40-45 for BRCA2 carriers. 1, 4
Enhanced breast surveillance with annual mammogram and breast MRI starting at age 25. 1
For women declining RRSO: Transvaginal ultrasound plus CA-125 every 6 months starting at age 35 (or 5-10 years earlier than earliest family diagnosis), though this surveillance has not been proven to reduce mortality. 1
Risk-Reducing Strategies Available Now
While awaiting genetic evaluation, you can reduce ovarian cancer risk through: 1, 3
Symptom Awareness Instead of Screening
Focus on recognizing ovarian cancer symptoms rather than relying on screening tests. 3 Be aware that early-stage ovarian cancer is usually asymptomatic, but persistent symptoms warrant evaluation: 3
- Abdominal bloating or increased abdominal size
- Pelvic or abdominal pain
- Difficulty eating or feeling full quickly
- Urinary symptoms (urgency or frequency)
Common Pitfall to Avoid
Do not request or accept CA-125 testing or transvaginal ultrasound as "screening" based on family history alone. 3, 4 This is a common error that leads to false reassurance if negative or unnecessary surgery if positive. The evidence clearly shows these tests do not save lives in this population and cause significant harm. 3