You’ve Tested Positive for the BRCA Mutation: Now What?
Published Feb 18, 2014
If you’ve seen a genetics professional, and your genetics test has been sent out for interpretation, you now have approximately 2-3 weeks of waiting for your results. Let’s say you’re waiting to hear back about the results of your BRCA test, BRCA being the most common gene involved in hereditary breast cancer (though it only accounts for approximately 5% of breast cancers.) What will your results mean to you and your health?
Everyone carries the 2 BRCA genes. If a mutation is identified, it means that the gene is not working, and cancer cells may slip by and multiply instead of being neutralized or killed off. The test for BRCA will offer 3 potential results:
1) A positive result: a mutation has been found;
2) A negative result, which may either be reassuring or, because of your strong family history, you may still be considered high risk; or
3) A variant of uncertain significance (VUS).
A VUS is a different spelling in your gene that may or may not be significant, but no one knows for sure until we follow many families and see if this spelling follows those family members who have cancers or not. For now, let’s talk about #1, a positive result.
For a patient who has just learned that they have a BRCA mutation, multiple options now come into play, such as screening with mammography and/or breast MRI, prevention agents, and preventative surgeries, such as mastectomy and the removal of ovaries and fallopian tubes. If one decides on surgery or surgeries, it is imperative that the pathologist studying the resulting tissue is made aware of its origins from a BRCA mutation carrier, so that he or she can spend extra time looking every few millimeters for even the tiniest of cancers that are not apparent on imaging.
While screening does not prevent a cancer, it can potentially find cancer as early as possible, when cure rates are at their highest. More invasive–but potentially more efficacious–are preventative surgeries which can prevent a cancer from occurring in 90-95+% of women.
The key here is to remember is that there is no right or wrong answer. It really comes down to what is right for the specific person and set of conditions in question and to be informed enough to make the correct decision for each individual case. Is a woman with the BRCA mutation still of childbearing age but has already had children? Is she young and childless but would like to have children? What is her relationship status? It is imperative to deeply consider the changes in body image and sexuality that follow the removal of the breasts. I would strongly encourage everyone to take advantage of counseling prior to the procedure, if it is available. I have had so many patients tell me it was really helpful for them.
Furthermore, don’t underestimate the day-to-day burden of worrying about developing cancer, especially if one has seen family members go through the diagnosis and treatment for cancer. A surgery may be less life- altering for some than living with constant anxiety.
In the end, it comes down to down to making your own personal best informed decision.