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BRCA Genetic Testing
Published on March 10, 2016.

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Part Two of a Three-Part Series by Norma E. Roth

What are BRCA1 and BRCA2?

BRCA1 and BRCA2 are the two most common gene mutations associated with hereditary breast and ovarian cancers. BRCA1 and BRCA2 are tumor-suppressor genes that help control or prevent cancer in our bodies. A person with a mutation in a BRCA1 or BRCA2 gene has increased cancer risks; understanding those risks is essential for informed medical decision making.

As actress and humanitarian Angelina Jolie noted in 2015, “Knowledge is power.” Jolie, who carries the faulty BRCA1 gene, opted for a bilateral mastectomy in 2013 and a bilateral oophorectomy in 2015 to prevent cancer.

What is BRCA genetic testing?

Several kinds of BRCA genetic tests are available using DNA from blood or saliva samples. Some tests look to identify whether an individual carries a mutation in one of the BRCA genes. There are also tests that look for a known mutation in one of these genes (a mutation already identified within a family).

Individuals interested in BRCA genetic testing should meet with a certified genetic counselor who will work through all aspects of the testing process. The counselor will assess a hereditary cancer risk based on the person’s individual and family health history, recommend the appropriate type of test, and review the medical implications of a positive or negative test result for the individual carrier and their family members.

Who should consider BRCA genetic testing?

BRCA genetic testing is recommended when a person’s individual or family health history suggests the presence of a BRCA1 or BRCA2 mutation. According to the National Cancer Institute, the following screening tools are used to determine who should have testing:

• Breast cancer diagnosed before age 50 years
• Cancer in both breasts in the same woman
• Both breast and ovarian cancers in either the same woman or the same family
• Multiple breast cancers
• Two or more primary types of BRCA1- or BRCA2-related cancers in a single family member
• Cases of male breast cancer
• Ashkenazi Jewish ethnicity

BRCA genetic testing is extremely helpful in allowing individuals to make informed medical decisions. For some, genetic testing may be the only way to know they are at risk of developing a BRCA-related cancer.

The Centers for Disease Control offers more information about family risk factors. If you are concerned that you might have inherited the genetic mutation that puts you at higher risk, talk to your doctor about whether genetic counseling might be appropriate.

Early detection of breast cancer remains the best chance for survival; for appointments, please book online or call 1-888-909-SJRA (7572). South Jersey Radiology offers mammograms at the Women’s Centers in Cherry Hill, Haddonfield, Marlton (Greentree), Turnersville, Washington Township, Cross Keys, West Deptford, Voorhees (Carnie Blvd. Office), and Virtua.


SJRA Blogger Norma Roth

About Norma E. Roth

Norma E. Roth, a breast cancer survivor, is a freelance journalist for health wellness and sustainable living. She is an advocate for annual mammography screening, believing early detection is the key to cancer survival. You can learn more about her at www.normaeroth.com.


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