BRCA Mutation Testing in Young Women With Breast Cancer

In young women diagnosed with breast cancer, BRCA testing is recommended. This study looked at the decisions surrounding testing and how results may influence treatment decisions. The study’s objective was to describe the genetic testing and evaluate how concerns about genetic risk affect treatment decisions in these young women. There were 897 women aged 40 years and younger observed that all had a breast cancer diagnosis.

A total of 780 women (87%) reported BRCA testing by 1 year after breast cancer diagnosis. This study took place from the year 2006 to the year 2014. As the years went on, a bigger percentage of women reported testing. For example, in 2006, 30 of 39 women (76.9%) reported testing. In 2008, 141 of 146 women (96.6%) tested. Among the untested women, 43 of 117 (36.8%) were thinking of testing in the future. A total of 248 of 831 women (29.8%) said that knowledge or concern about genetic risk influenced surgical treatment decisions. In conclusion, rates of BRCA mutation testing are increasing in young women with breast cancer. Given that knowledge and concern about genetic risk influences surgical decisions, all women with breast cancer should be counseled and offered genetic testing.

We have started talking a good amount about the genetic role in pharmacy and pharmacotherapy. Do you think that genetic testing, especially in cancer, should be pushed for more? Does this testing actually benefit patients or just get them worried and thinking more? I think genetic testing is a great tool for health professionals to have and we should use it to our advantage as much as possible. The problem is, however, getting the public on board with it. What is the best way to accomplish that?

JAMA Oncol. Published online February 11, 2016. doi:10.1001/jamaoncol.2015.5941

2 thoughts on “BRCA Mutation Testing in Young Women With Breast Cancer”

  1. I think genetic testing for various mutations should be stressed in the community. Although, before this push is made, the public should be well educated on the implications of testing. It’s important that the general public understands everything there is to know about the test and what the results mean. There may be certain misconceptions about testing that could lead to greater worry. The ethical issues are present and these should also be addressed before such a push is made. When we find a way to best educate the public about the implications of their results, then genetic testing would indeed be a useful preventative tool. If young females that receive this test are more likely to participate in early breast cancer screenings this could be the key to earlier diagnosis and a better prognosis overall.

  2. Testing for conditions like these should happen much more often than it does. Knowing about a condition such as breast cancer early on in its development could mean the difference between life and death. I think that once genetic testing becomes more affordable and more socially understood, we’ll begin to see much more implementation of tests such as these.

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