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JAMA Patient Page
August 20, 2019

Should I Be Tested for BRCA Mutations?

JAMA. 2019;322(7):702. doi:10.1001/jama.2019.11251

The US Preventive Services Task Force (USPSTF) recently published recommendations on risk assessment, genetic counseling, and genetic testing for BRCA mutations and BRCA-related cancers.

What Is BRCA?

The BRCA genes (BRCA1 and BRCA2) are present in everyone. In some people, certain abnormal versions of these genes (mutations) result in increased risk of breast, ovarian, peritoneal, fallopian tube, and pancreatic cancer. These gene mutations can be passed from parent to child and account for 5% to 10% of breast cancer cases and 15% of ovarian cancer cases in women. Testing for BRCA1/2 mutations is recommended in some individuals. For those who test positive for harmful BRCA1/2 mutations, there are ways to lower lifetime cancer risk, such as more intensive cancer screening, medications, or preventive surgery (removal of breasts, fallopian tubes, and/or ovaries).

What Tools Are Used to Assess and Test for BRCA-Related Cancer Risk?

Several tools assess for increased risk of having a harmful BRCA1/2 mutation. These tools account for risk factors such as family or personal history of breast or ovarian cancer, especially at younger than 50 years, in multiple family members, or in 1 person at 2 sites (such as breast cancer on both sides or both breast and ovarian cancer); family history of male breast cancer; and Ashkenazi Jewish ethnicity.

Genetic counseling is recommended for patients at higher risk and involves education about BRCA-related cancers, the benefits and harms of genetic testing, how to interpret results of testing, and management options for concerning test results. Genetic tests use a blood sample and are highly accurate for specific mutations, but the interpretation of what those mutations mean in terms of cancer risk can be complex.

What Is the Patient Population Under Consideration for Risk Assessment and Genetic Counseling and Testing for BRCA Mutations?

This USPSTF recommendation applies to women without cancer symptoms with unknown BRCA1/2 mutation status.

What Are the Potential Benefits and Harms of Risk Assessment and Genetic Counseling and Testing for BRCA Mutations?

The potential benefit of assessing BRCA1/2 mutation risk and referring appropriate patients for genetic counseling/testing is improving patients’ understanding of their risk of BRCA-related cancers and their options for reducing this risk. For those who test positive for harmful BRCA1/2 mutations, there is good evidence that preventive measures such as surgery reduce lifetime risk of breast and ovarian cancer. Potential harms of risk assessment, counseling, and testing include psychological distress and unnecessary further imaging or interventions (such as surgery) with false-positive results. There are also potentially harmful side effects of preventive medications such as tamoxifen.

How Strong Is the Recommendation to Assess Risk and/or Test for BRCA Mutations?

Based on current evidence, the USPSTF concludes with moderate certainty that for women whose family or personal history suggests increased risk of harmful BRCA1/2 mutations, there is moderate net benefit of risk assessment and referral to genetic counseling for consideration of BRCA1/2 testing and early intervention. In women whose personal or family history is not associated with increased risk of harmful BRCA1/2 mutations, the USPSTF concludes with moderate certainty that the harms of risk assessment and referral to genetic counseling for consideration of testing, detection, and intervention outweigh the benefits.

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Conflict of Interest Disclosures: None reported.

Source: US Preventive Services Task Force. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force recommendation statement [published August 20, 2019]. JAMA. doi:10.1001/jama.2019.10987

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