US panel rejects routine use of BRCA cancer screening in women

BMJ 2013; 346 doi: (Published 04 April 2013) Cite this as: BMJ 2013;346:f2160
  1. Michael McCarthy
  1. 1Seattle

Women whose family history does not suggest that they have an increased risk of carrying harmful BRCA1 and BRCA2 mutations should not undergo routine BRCA testing, according to draft recommendations released on 2 April by the US Preventive Services Task Force (USPSTF).1

Women whose family history suggests that they carry the cancer susceptibility genes should be tested but only after expert genetic counseling, the USPSTF panel said.

About 12.3% of women will develop breast cancer in their lifetime, and 2.8% will die from the disease. Clinically significant mutations in the tumor suppressor genes BRCA1 and BRCA2 increases the risk of breast cancer to 34-70% by the age of 70 years.

Ovarian cancer develops in 1.4% of women in the general population. With clinically significant BRCA1 mutations, however, the risk that a woman will develop ovarian cancer by the age of 70 years increases to 41-46% and with BRCA2 to17-23%.

In its draft recommendations, the panel found with “moderate certainty” that for women whose family history suggested an increased risk of BRCA linked cancers, the benefit of testing and early intervention was “moderate.”

But the panel also found, again with “moderate certainty,” that among women without a significant family history for BRCA linked cancers the benefits of testing and early intervention were “minimal to potentially harmful.”

Typical interventions include more intensive cancer screening, use of risk reducing drugs (such as tamoxifen and raloxifene), and bilateral prophylactic mastectomy and salpingo-oophorectomy.

Although these interventions do reduce cancer risk in these patients—mastectomy, for example, cuts the risk by 85-100%—they also carry their own risks, including the possibility that the screening result was a false positive, the potential for thromboembolic events and endometrial cancer with tamoxifen and raloxifene, and the chance of surgical complications with mastectomy and salpingo-oophorectomy.

A family history associated with harmful BRCA mutations is considered to be a relative diagnosed as having breast cancer before age 50, a family member with a history of bilateral breast cancer, or a history of both breast and ovarian cancer in the family.

To determine the likelihood that a woman might carry BRCA mutations, the panel said that physicians should use validated risk assessment tools, such as the Ontario Family History Assessment Tool, Manchester scoring system, or the Pedigree Assessment Tool.

The prevalence of BRCA mutations varies among different populations. In the general population, about 1 in 300 to 500 women (0.2-0.3%) carry BRCA mutations. However, the prevalence is 2.1% among Ashkenazi Jewish women, and 6.0% among women who develop breast cancer before age 40.

The panel’s recommendations will be open for consultation until 29 April 2013.


Cite this as: BMJ 2013;346:f2160