Study: BRCA testing in young women with breast cancer

IN DEPTH REVIEW OF RESEARCH

Study background:

For a young breast cancer survivor, knowing that you have a BRCA mutation alerts you to increased risk for both a second breast cancer and ovarian cancer. BRCA mutation carriers have a variety of treatment and cancer risk management options, including risk-reducing mastectomy, removal of the ovaries and fallopian tubes, risk-reducing medication, increased screening, and eligibility for clinical trials that study new targeted therapies. However, previous research has shown that although all young women with breast cancer meet guidelines for BRCA testing, many are still not being offered the opportunity to test.

In February 2016, Dr. Ann Partridge and colleagues from the Dana-Farber Cancer Institute and other institutions published a paper in JAMA Oncology about their study of BRCA mutation testing in young women with breast cancer.

Researchers of this study wanted to know:

How BRCA testing is utilized in young women and whether this genetic information or knowledge about genetic risk affects their choice of treatment.   

Population(s) looked at in the study:

A total of 897 women who were diagnosed with breast cancer at age 40 or younger participated. The women, who are part of the Helping Ourselves, Helping Others: The Young Women’s Breast Cancer Study cohort, are patients from community hospitals in Massachusetts and academic sites in Massachusetts, Denver, Colorado, Rochester, Minnesota, and Toronto.

Study findings: 

1. 87% of young women who were diagnosed with breast cancer reported having BRCA testing within one year after their diagnosis.
2. The number of women age 40 or younger with breast cancer who had genetic testing increased from about 77% in August 2006 to about 96% in December 2013.  
3. About 96% of young women who were diagnosed with breast cancer during both 2012 and 2013 received BRCA testing.
4. About 30% of young women diagnosed with breast cancer said that genetic information or concern about cancer risk made a difference when they were making decisions regarding treatment.
   • About 86% of BRCA mutation carriers chose bilateral mastectomy, compared to 51% of women who did not carry a BRCA mutation.
5. Among young women who did not have BRCA testing, about 69% said that a health care provider had talked to them about the possibility of having a BRCA mutation.
   • Of those who did not discuss BRCA testing with their healthcare provider:
     • 19% said they were planning on discussing this in the future
     • 22% said they were thinking about discussing it in the future
     • 30% said they did not know if they wanted to discuss this in the future
     • 14% said they were not interested in talking about BRCA.
   • Researchers asked why women did not have genetic testing and found that:
     • 24% didn’t think they were at risk for having a mutation
     • 24% didn’t get tested because their health care provider thought it was unlikely that they had a mutation
     • 18% of women did not get testing because they were worried about insurance or work issues that might occur if they received a positive test result
     • 11% did not get testing because they could not afford it.

Limitations:

This study was performed when genetic testing for hereditary risk of breast cancer was limited primarily to BRCA1 and BRCA2 gene analysis. At the time, Myriad Genetics Inc., held a patent on BRCA testing, which was struck down by the Supreme Court in 2013. Now, many young breast cancer survivors are offered expanded panel testing that simultaneously analyzes several novel hereditary breast cancer genes, including BRCA. The genetic testing landscape is rapidly changing, and more work is needed to evaluate the use of multigene panels for young breast cancer survivors. For example, it is possible that some of the BRCA-negative women in this study could harbor a mutation in one of the hereditary breast cancer genes included on the panel tests, and would carry other cancer risks that would have influenced their management decisions.

Additionally, these findings are limited to young women who are likely insured, and the majority was treated in academic cancer centers. It is possible that women in areas without access to experts in cancer genetics are not getting testing as often as the women in this study. In an editorial in the same issue of JAMA Oncology, Dr. Kathleen Blazer and colleagues wrote, “We concur with the authors that, unfortunately, it is unlikely that this level of access to, or participation in [genetic cancer risk assessment] would be found in the community setting or among the economically underserved or ethnic minorities.”

Conclusions:

The study authors noted, “Our findings highlight recent trends, experiences, and perspectives surrounding BRCA testing in women diagnosed as having breast cancer at 40 years and younger.” This study indicates that BRCA testing is increasing in young women with breast cancer. More work needs to be done to evaluate the use of multigene panels in both the young breast cancer survivor as well as other at risk populations. The editorial by Dr. Blazer and colleagues also noted that, “The task remains to ensure that the benefits of [genetic cancer risk assessment] reach more individuals and families, including those among underrepresented minorities, with economic disparities, and in low-to middle-income countries.”

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Posted 3/22/16