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Assessing the Genetic Risk for BRCA-Related Breast or Ovarian Cancer in Women: Recommendations From the U.S. Preventive Services Task Force FREE

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The full report is titled “Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement.” It is in the 18 February 2014 issue of Annals of Internal Medicine (volume 160, pages 271-281). The author is V.A. Moyer, on behalf of the U.S. Preventive Services Task Force.

This article was published online first at www.annals.org on 24 December 2013.

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Ann Intern Med. 2014;160(4):I-16. doi:10.7326/P14-9008
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Who developed these recommendations?

The U.S. Preventive Services Task Force (USPSTF) is a group of physicians and other health care experts that makes recommendations about preventive health care.

What is the problem and what is known about it so far?

Many women with breast cancer have first-degree (mother, sister, or daughter) or second-degree (aunt) relatives with breast cancer. Mutations in 2 genes increase risk for breast and ovarian cancer: breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2). These mutations are more common in certain ethnic groups, such as Ashkenazi Jewish people. However, not all women with a family history of breast or ovarian cancer have one of these mutations, and not all women with one of these mutations will develop cancer. Genetic testing could identify women who should consider procedures to reduce cancer risk (intensive screening; medication; or surgical removal of breasts, ovaries, or both). However, because not all women who have a BRCA mutation develop cancer, identification of mutations may also needlessly expose women to anxiety or unnecessary procedures.

How did the USPSTF develop these recommendations?

The USPSTF reviewed published research to evaluate the benefits and harms of risk assessment, genetic counseling, and testing for BRCA mutations in women with a family history of breast or ovarian cancer but no personal history of cancer and no relatives with known BRCA mutations. It also reviewed published research about ways to reduce BRCA-related cancer risk in women with BRCA mutations.

What did the authors find?

The cancer types associated with BRCA mutations include breast, ovarian, fallopian tube, and peritoneal (abdominal cavity lining). Among women with BRCA mutations, 45% to 65% will develop breast cancer. These mutations occur in about one of every 300 to 500 women in the general population and in about 2 of every 100 Ashkenazi Jewish women.

Evaluating genetic risk for BRCA-related cancer is a multistep process that involves more than simply testing for the gene mutation. The first step is to ask standard questions about the woman and her family history. If her answers suggest a risk for BRCA mutations, the woman should receive genetic counseling to determine whether BRCA testing is needed. If her test results are positive, she should receive counseling about strategies to reduce BRCA-related cancer risk.

The Task Force found that for women with a family history that suggests BRCA mutations, there is moderate certainty that the benefit of testing and early intervention outweighs the harms. However, for women whose family history does not suggest a risk for BRCA mutations, the harms of testing outweigh the benefits.

What does the USPSTF recommend that patients and doctors do?

Primary care providers should screen women with family members who have breast, ovarian, tubal, or peritoneal cancer by using one of several available standardized questionnaires to see whether the family history suggests possible BRCA mutations. Women with positive screening results should receive genetic counseling and, if counseling indicates, BRCA testing.

Women whose family history does not suggest possible BRCA1 or BRCA2 mutations should not receive genetic counseling or be tested for BRCA mutations.

What are the cautions related to these recommendations?

These recommendations do not apply to women with a personal history of breast or ovarian cancer or those with a family member who has a known BRCA mutation. These women should be screened appropriately.





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Submit a Comment/Letter
Concerns regarding the USPSTF on BRCA testing
Posted on January 9, 2014
Rebecca Mueller, Susan M. Domchek, Katherin L. Nathanson
University of Pennsylvania
Conflict of Interest: None Declared
The recently released USPSTF statement on Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women included important revisions from the draft statement released in April 2013, however it has several limitations. In particular, the exclusion of affected individuals (i.e. those with a personal history of cancer) is problematic. Although the statement notes that affected individuals may be the ideal candidate to undergo BRCA testing via screening of their unaffected relatives, it fails to recognize the preventive benefits associated with identification of genetic risk due to BRCA1/2 in individuals with a history of cancer. Women with a history of breast cancer not only “should be encouraged to discuss further evaluation with their clinician,” but should also have access to the screening and prevention for the second primary cancers that they are at significantly increased risk of developing. Primary providers may be helpful in identification of testing candidates who are no longer followed by oncology professionals. Secondary prevention strategies (particularly risk-reducing oophorectomy) significantly reduce cancer risk and mortality in this population.1 Additionally, this information allows family members to undergo single-site testing for the known mutation, or to avoid genetic testing if no mutation is identified in the affected individual, which is a more cost-effective and rational approach to testing within a family.

In addition, the statement fails to recognize:
1. That men may derive benefit from genetic testing for mutations in BRCA1/2. Male carriers have higher risks for male breast cancer, prostate cancer, melanoma, and pancreatic cancer. We believe it is inappropriate to exclude men as potential beneficiaries from mutation testing.
2. The challenges of testing women between ages 18-24. In general, specialized screening and prevention options are not initiated in female carriers until age 25.2 Knowing one is at high risk but not yet at the age to be screened should be part of the genetic counseling discussion for when to initiate testing.
3. That more comprehensive BRCA testing, beyond founder mutations, is sometimes indicated in individuals of Jewish ancestry.

Finally, we feel that the statement “Evidence is lacking on the effect of intensive screening for BRCA-related cancer on clinical outcomes in women who are BRCA mutation carriers” may be misleading to primary providers. Although there are no randomized studies, there are data to suggest an improvement in stage of diagnosis with intensive breast cancer screening.3


Rebecca Mueller, MS, CGC
Genetic Counselor, University of Pennsylvania MacDonald Cancer Risk Evaluation Program
Philadelphia, Pennsylvania

Susan Domchek, MD
Director, Basser Research Center for BRCA, University of Pennsylvania
Director, MacDonald Cancer Risk Evaluation Program
Abramson Cancer Center
Philadelphia, Pennsylvania

Katherine L. Nathanson, MD
Associate Professor of Medicine, University of Pennsylvania
Co-Leader, Cancer Control Program
Chief Oncogenomics Physician
Abramson Cancer Center
Philadelphia, Pennsylvania

On behalf of the University of Pennsylvania MacDonald Cancer Risk Evaluation Program

1 Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, et al. Association of risk reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010 Sep 1;304(9):967-75.
2 National Comprehensive Cancer Network [Internet]. NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian- Version 4.2013 Hereditary Breast and/or Ovarian Cancer Syndrome, HBOC-A. Accessed online 1-6-2014. http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf
3 Passaperuma K, Warner E, Causer PA, Hill KA, Messner S, Wong JW, et al. Long-term results of screening with magnetic resonance imaging in women with BRCA mutations. Br J Cancer. 2012 Jun 26;107(1):24-30.
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