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USPSTF supports BRCA-related cancer screening in women with family history
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The US Preventive Services Task Force recommended that primary care physicians screen asymptomatic women with a family history of breast, ovarian, tubal or peritoneal cancers for BRCA1 or BRCA2 mutations.
The recommendation also recommended against genetic counseling or BRCA testing for average-risk women.
Virginia A. Moyer
“Too many American women and families are faced with the challenge of dealing with cancer diagnosis and treatment,” Virginia A. Moyer, MD, MPH, chair of task force, said in a press release. “We have great hope in the science of genomics to improve screening practices and even prevent some cancers.”
Screening should assess risk based on family history factors, including breast cancer diagnosis before age 50 years, bilateral breast cancer, occurrence of breast and ovarian cancer, breast cancer in one or more male family members, multiple incidences of breast cancer, one family member with two primary types of BRCA-related cancers, and Ashkenazi Jewish ethnicity.
BRCA1 and BRCA2 mutations occur in approximately 0.2% to 0.3% of women in the general population. A meta-analysis conducted by the task force showed the prevalence increased to 2.1% in a general population of Ashkenazi Jewish women.
The task force recommended women who screen positive for BRCA-related cancers should undergo genetic counseling. Women with positive indications after genetic counseling should then undergo BRCA mutation testing.
Results of a meta-analysis of intervention efforts among women identified as BRCA mutation carriers indicated there were seven fewer events per 1,000 women who received tamoxifen, and nine fewer events per 1,000 women who receive raloxifene (Evista, Eli Lilly) for 5 years. Mastectomy reduced risk for breast cancer by 85% to 100%. Oophorectomy or salpingo-oophorectomy reduced risk for ovarian cancer by 69% to 100% and the risk for breast cancer by 37% to 100%.
According to the task force, potential harms from intensive screening include false-positive results, as well as unnecessary imaging and surgery.
An analysis of two studies indicated mammography compared with MRI was associated with increased false-positive rates (14.5% vs. 5.5% and 15% vs. 11%). Women who underwent mammography also were more likely to undergo unneeded imaging than those screened with MRI.
Risk-reducing medications were associated with an increased risk for thromboembolic events (four to seven events per 1,000 women over 5 years), and tamoxifen increased the risk for endometrial cancer (four to five cases per 1,000 women) and cataracts (15 per 1,000 women) compared with raloxifene.
An analysis of risk-reducing surgery indicated 64% of women reported postsurgical symptoms after mastectomy and 5% reported postsurgical complications after oophorectomy.
“Evidence still shows that there are serious, negative consequences that could result from testing women who are at low risk for BRCA mutations,” Moyer said. “The BRCA test works best for women who have reviewed their family history of breast or ovarian cancer and the pros and cons of screening test with a trained professional.”
This recommendation reaffirms the task force’s previous recommendation on BRCA testing issued in 2005.
Perspective
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Sara M. Tolaney, MD, MPH
Certainly routine referral for genetic testing would have important psychological and ethical implications, and I agree with the USPSTF recommendations against routine screening. Furthermore, there is no randomized data to suggest that risk assessment and BRCA testing has any impact on cancer incidence. The USPSTF guidelines recommend that primary care providers refer women with a family history associated with an increased risk of a BRCA mutation to a genetic counselor to discuss BRCA testing. For women who learn that they have a mutation, they can certainly consider intensive screening, chemoprevention, prophylactic mastectomy or oophorectomy, or a combination of these. However, there is not sufficient evidence to suggest that these measures have a significant impact on mortality.
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