What are the screening protocols for ovarian cancer in women with a family history of breast or cervical cancer?

Ovarian Cancer Screening in Women with Family History of Breast or Cervical Cancer

Routine ovarian cancer screening is NOT recommended for women with a family history of breast cancer alone, and cervical cancer family history does not increase ovarian cancer risk or warrant screening. However, women with a family history of breast cancer should undergo genetic risk assessment to determine if they carry BRCA mutations, which would then change their management approach. 1

Key Distinction: Family History of Breast vs. Ovarian Cancer

A family history of cervical cancer is irrelevant to ovarian cancer risk and does not warrant any special screening protocols. 1

For women with a family history of breast cancer, the critical question is whether this represents a hereditary breast-ovarian cancer syndrome (BRCA1/2 or Lynch syndrome):

Who Needs Genetic Counseling and Testing

Women should be referred for genetic counseling if they have: 1

• Two or more first- or second-degree relatives with a history of ovarian cancer OR a combination of breast and ovarian cancer
• For Ashkenazi Jewish women: One first-degree relative OR two second-degree relatives on the same side of the family with breast or ovarian cancer
• A family member with a known BRCA1/2 mutation 2
• A close blood relative with breast cancer diagnosed at age ≤50 years 2

Screening Recommendations Based on Genetic Status

For women WITHOUT known BRCA mutations (average risk, even with breast cancer family history):

• Do NOT screen for ovarian cancer - the USPSTF gives this a Grade D recommendation 1
• Annual screening with transvaginal ultrasound and CA-125 does not decrease ovarian cancer mortality and leads to unnecessary surgeries in women without cancer 1
• The harms of screening (false positives leading to surgical interventions) outweigh any potential benefits 1

For women WITH confirmed BRCA1/2 mutations:

• Transvaginal ultrasound + CA-125 every 6 months starting at age 35 years, or 5-10 years earlier than the earliest age of ovarian cancer diagnosis in the family 1
• Testing should be performed on days 1-10 of the menstrual cycle for premenopausal women 1
• However, even this screening is ineffective - studies show 65% of cancers in BRCA carriers are still detected at stage 3 or 4 despite screening, with poor survival outcomes 3
• Risk-reducing salpingo-oophorectomy between ages 35-40 (after completion of childbearing) is the most effective intervention and should be strongly recommended 1

Signs and Symptoms of Early Ovarian Cancer

Early ovarian cancer is typically asymptomatic, which is why screening fails. 4 The physically inaccessible location of the ovaries and lack of specific early symptoms make early detection extremely difficult. 4

When symptoms do occur, they are often vague and non-specific, and most women (80%) are diagnosed with advanced disease (stage III or IV). 1, 5

Critical Clinical Pitfalls

The most important pitfall is confusing family history of breast cancer with automatic need for ovarian cancer screening. The pathway is: family history of breast cancer → genetic risk assessment → if BRCA positive, then consider screening (though risk-reducing surgery is superior). 1, 2

Another major pitfall: Even in BRCA carriers, screening with ultrasound and CA-125 has NOT been shown to reduce mortality and detects most cancers at advanced stages. 3 The UK Familial Ovarian Cancer Screening Study found 5-year survival in BRCA1/2 carriers was only 58.6% despite annual screening. 3

Women with BRCA mutations should be counseled that prophylactic bilateral salpingo-oophorectomy provides far greater mortality benefit than screening. 1 This surgery reduces ovarian cancer risk by approximately 80-90% and also reduces breast cancer risk by 50% in premenopausal women.

Management Algorithm

1. Assess family history: Does it meet criteria for genetic counseling? (See criteria above) 1, 2
2. If YES: Refer for genetic counseling and BRCA1/2 testing 1, 2
3. If BRCA positive: Recommend risk-reducing salpingo-oophorectomy at age 35-40; if patient declines, offer surveillance with transvaginal ultrasound + CA-125 every 6 months (while emphasizing limited effectiveness) 1, 3
4. If BRCA negative or no high-risk family history: Do NOT screen for ovarian cancer 1
5. If family history of cervical cancer only: No increased ovarian cancer risk; follow general population guidelines 1

All women with nonmucinous epithelial ovarian cancer diagnosed should undergo BRCA testing, as this informs treatment decisions and identifies at-risk family members. 1