New Breast Cancer Genetic Testing Recommendations

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USPSTF reaffirms guidance on BCRA genetic testing

December 23, 2013 / Author:  / Reviewed by: Joseph V. Madia, MD Beth Bolt, RPh

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(dailyRx News) Because her mother had ovarian cancer, actress, director and humanitarian Angelina Jolie underwent genetic testing. Should you? The United States Preventive Services Task Force (USPSTF) issued its latest recommendations.

According to the USPSTF, if a woman has a family history of breast, ovarian, tubal or peritoneal cancer, her primary care physician should assess her risks of having mutations in what are called breast cancer susceptibility genes — BRCA1 and BRCA2.

If these screenings are positive, the woman should undergo genetic counseling and, if indicated, BRCA testing.

The Task Force recommends against routine genetic counseling and testing for average risk women, and these guidelines do not apply to men or to women who have been diagnosed with either breast or ovarian cancer.

"Ask your doctor if you need genetic testing for breast cancer."

The USPSTF issued recommendations in 2005 for women who should be screened to identify a family history that may be associated with increased risks of having mutations in the breast cancer susceptibility genes called BRCA1 and BRCA2.

The Task Force has confirmed these recommendations following a review of the latest clinical research led by Heidi D. Nelson, MD, MPH, of the Oregon Health & Science University and Providence Cancer Center in Portland, Oregon.

What are the BRCA genes? BRCA1 and BRCA2 genes are designed to suppress tumor growth. If one or both of these genes is defective, a woman’s breast and ovarian cancer risks increase:

  • Breast cancer risks in women with clinically significant mutations in either BRCA gene go from 12.5 percent, which most women have, to a range of 45-65 percent.
  • Ovarian cancer risks increase from 1.4 percent, which most women have, to 35 percent with a BRCA1 mutation and 10-17 percent with a BRCA2 defect.

Who should undergo a family history assessment? According to the USPSTF guidelines, primary care physicians should screen women who have family members with the following cancers:

  • Breast
  • Ovarian
  • Fallopian tubes (also known as tubal cancer)
  • Peritoneum (lining of the pelvis and abdomen)
  • Any BRCA-related cancer

What types of tests are these? The USPSTF identified four reliable questionnaires for primary care physicians to use in assessing a woman's risk of having harmful BRCA mutations:

  • Ontario Family History Assessment Tool (FHAT)
  • Manchester Scoring System
  • Referral Screening Tool (RST 177)
  • Pedigree Assessment Tool (PAT)

“The USPSTF recommends that women with positive screening results receive genetic counseling and, if indicated after counseling, BRCA testing,” the Task Force statement said.

It is important that genetic counseling be provided by a trained professional and an accredited genetic testing lab.

If a harmful BRCA mutation is discovered following testing, there are a number of ways to decrease her cancer risks, which after consultation with her physician, may include the following:

  • More frequent or intensive screening, which could include annual mammography supplemented with MRI magnetic resonance imaging studies
  • Use of risk-reducing medications — tamoxifen (brand names Nolvadex, Soltamox, Tamofen, Tamoxen) and raloxifene (brand name Evista)
  • Risk-reducing surgery — bilateral mastectomy (removal of both breasts) and salpingo-oophorectomy (removal of ovaries).

The Task Force does not recommend genetic counseling or testing for women with average breast cancer risks, i.e., without a family history of cancer.

Because her mother died of ovarian cancer at the age of 56, Jolie had genetic testing that revealed she had a mutation in the BRCA1 gene, which increased her odds of developing both breast and ovarian cancer. Her choice was to have a bilateral mastectomy.

Share this article with your primary care physician so you can learn more about your breast and ovarian cancer risks.

The Task Force Recommendation and research review were published December 23 in the Annals of Internal Medicine.

The USPSTF literature review was funded by the Agency for Healthcare Research and Quality.

Review Date: 
December 22, 2013
Last Updated:
December 24, 2013