Gene mutations play a key role in the development of breast cancer, but asking your doctor about these mutations can impact your breast cancer experience. Your DNA contains the instructions for thousands of genes written in a special code. For example, genes contain the information that determines the color of your eyes. They also contain information that affects how the cells in your body grow, divide and die. A gene mutation is like a typo in the DNA instruction manual. While a normal gene will be turned into a healthy protein, a mutated gene will be turned into an abnormal protein or no protein at all. When these mutations accumulate, it upsets the delicate checks and balances that keep cell division and cell death under control – leading to cancer.
There are two types of gene mutations: tumor mutations and inherited mutations. Tumor mutations are more common. They occur randomly, are only found in your tumor cells and they’re not passed on from parent to child. Inherited mutations are inherited from your parents and can be passed on to children – both daughters and sons. If you have an inherited mutation, it can be found in all the cells in your body.
Both types of mutations can play a role in breast cancer, and learning about your breast cancer’s unique mutations can empower you to make decisions about your treatment. Here are three reasons to ask your doctor about gene mutations:
- Mutations may impact your family member’s risk of breast or other cancers. If you find out you have an inherited mutation, this could mean your children or relatives are at a higher risk for developing breast or other types of cancer. Knowing this information is important because they may need earlier or additional screenings than someone without a relative with an inherited mutation. A good example is the BRCA1 and BRCA2 mutations. A person who inherits a mutation in one of these genes has more than a 60% chance of developing breast cancer, and there is a 50% chance they will pass the mutation to their children.
- Mutations may reveal the best treatment options for you. Since some inherited mutations put you at higher risk of getting breast cancer in the opposite breast, the type of mutation you may have may indicate the best surgery option for you. Also, there are some treatments approved for metastatic breast cancers (breast cancer that has spread beyond the breast to other parts of the body) that have a specific tumor mutation. Finding out if you have one of these mutations could provide more treatment options for you. Doctors can check if your cancer has mutations with biopsies or blood tests.
- Tumor mutations can change or develop over the course of treatment. Breast cancers are sneaky and can develop new mutations over the course of their life to avoid dying from a treatment. Even if you’ve been tested for genetic mutations, it’s important to be aware of this fact. If you have a breast cancer recurrence that has metastasized, or if you have metastatic breast cancer that progresses, this is a good time to ask your doctor to take another look at your breast cancer’s mutations to make sure you’re getting the best treatment.
If you’re facing a breast cancer diagnosis and not sure where to begin, you’ve come to the right place. Our Know More series will continue to help educate you and arm you with the tools you’ll need to feel empowered to advocate for yourself through your experience.
Read More:
Downloadable Resource: Talking to Your Doctor About Mutations After Your Breast Cancer Diagnosis
Downloadable Resource: Questions to Ask Your Doctor: Inherited Gene Mutations and Breast Cancer Risk
Downloadable Resource: Genetics and Breast Cancer
Genetic Testing to Learn About Breast Cancer Risk
Genetic Testing After a Breast Cancer Diagnosis
Watch & Hear More:
Breast Cancer Breakthroughs: Bringing Treatments to Life
Real Pink Podcast: I’ve Seen the Advancements in Genetic Testing Firsthand
Real Pink Podcast: Did You Know That Your Tumor Might Change Over Time?
More Actions You Can Take:
Contact Komen’s Patient Care Center for support.
Join ShareForCures®. ShareForCures® is Komen’s Breast Cancer Research Registry that will be answering some of the most pressing questions in breast cancer. Anyone diagnosed with breast cancer over age 18 in the U.S. is eligible to participate.
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