September is Ovarian Cancer Awareness Month

Advances in treatment offer new hope

In March of 2015, I wrote a blog post about a new and exciting FDA-approved drug for women who had ovarian cancer and also had inherited mutations in the BRCA1 or BRCA2 genes.  Little did I know, the excitement surrounding new treatments for women with ovarian cancer was just beginning!  For decades, there were minimal advances in drug development for women with ovarian cancer. But within the past three years, three new options in a class of drugs called PARP-inhibitors have been approved by the FDA and are available to patients. 

How these drugs are used, and whether you can benefit from them, depends on whether you inherited a BRCA1 or BRCA2 gene mutation, or whether your tumor has one of these mutations.  It’s a little confusing and a lot to sort out. September is Ovarian Cancer Awareness Month, so it’s a good time to help women understand this cancer, the new treatment options and how genetic counseling might help. 

What’s the difference between having an inherited BRCA gene mutation and having a gene mutation that is only present in the tumor?

A genetic mutation is like a “typo” in a gene. A cancerous tumor has many genetic changes that make it different from your other cells and in most cases, the person with cancer was not born with these genetic mutations. Mutations in a tumor are acquired over time and they can change as the disease changes. This means that a woman with ovarian cancer may have had blood tests in the past and learned she was negative for inherited BRCA mutations but an analysis of her tumor tissue might show that a BRCA gene mutation is present in the tumor.

If I have ovarian cancer, what new treatment options should I know about?

The number of therapeutic options is growing and more women might benefit from these new drugs.  The first approved drug (olaparib) was initially approved only for women who had ovarian cancer, an inherited BRCA1 or BRCA2 gene mutation, and had failed three other lines of treatment.  Now there are drugs (niraparib and rucaparib) for women who do not have BRCA1 or BRCA2 gene mutations or if they have a BRCA mutation but it’s only in their tumor. More on that in a minute!

How do I know if a mutation in a BRCA gene is present in my tumor?

Ask your doctor if your tumor was tested for BRCA mutations. If your cancer was diagnosed in the past before they were able to test for the BRCA gene, here’s a little-known fact: it’s possible to test cancerous tissue that was removed during surgery many years ago. Hospitals store pieces of tumor tissue after surgery, in many cases for at least 10 years. Having this genetic information about your tumor might tell you if one of these new treatment options could be helpful for you.

If the mutation is only in my tumor tissue, how does it affect my family members’ risk?

If your mutation is confirmed as being present only in your tumor, this will not affect your family’s cancer risk.  However, it’s important to remember that if you only had tumor genetic testing, it can be hard to tell if any mutations that are found are just in the tumor or if they were inherited.  Sometimes, additional blood genetic testing is necessary to know for sure.  A genetic counselor can help you sort this out and determine if any additional testing would be beneficial.

How do I know if I need more genetic testing?

This can be a difficult question to answer. But the good news is you don’t have to figure it out on your own.  Genetic counselors and oncologists are great at working together to come up with the best testing plan for people who have been diagnosed with cancer.  There are many labs and even more tests to choose from – each of them different in some way – and the list grows every day.  Making sure patients get the best possible care is definitely a whole team approach!  You’re the team’s quarterback so ask your doctor about genetic counseling and testing.  It can make a difference.  You can find a genetic counselor in your area by using NSGC’s Find a Genetic Counselor tool.

Leigha Senter-Jamieson, MS, LGC is an associate professor in the Division of Human Genetics in the Department of Internal Medicine at The Ohio State University.


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