3 Things You Need to Know: Biomarker Testing and Genetic Mutations in Breast Cancer

This year alone an estimated 276,000 women and 2,620 men in the United States will be diagnosed with breast cancer. While breast cancer continues to impact a significant number of people each year, scientific advancements have led to more personalized treatment options. Researchers have developed a greater understanding about the role that genes and defects in these genes, called mutations, can play in cancer development as well as help inform treatment decisions. Here’s what you need to know.

What is biomarker testing?

Just as each person’s fingerprint is unique, breast cancer is different for every patient. Each breast cancer tumor has its own unique characteristics, including the presence of biomarkers.

Scientists and medical professionals can better understand a patient’s unique type of breast cancer with tests to detect specific biomarkers in tumors. Biomarker testing can be done by collecting tissue samples from a cancer tumor during a surgical procedure called a biopsy. Cancer cells are then analyzed in a lab to identify the biomarkers.

Biomarker testing can be done as soon as a patient is diagnosed with cancer. Medical organizations recommend patients undergo biomarker testing as early as possible, as it will help doctors determine a treatment plan and the best course of care.

Treatment plans based on biomarker testing may include innovative medicines called targeted therapies, which are designed to target specific biomarkers in an individual tumor. Understanding more about the characteristics of a person’s tumor through biomarker testing can help doctors identify appropriate therapy options, including personalized treatments. If you have been diagnosed with breast cancer, it’s important to talk to your doctor about biomarker testing and how the results may inform your treatment decisions and family cancer risk.

What genes are important in breast cancer?

Breast cancer can be influenced by genetics and may be passed on from parent to child. In some cases, inherited mutations in certain genes can mean a higher risk of developing breast cancer. For those at risk of inherited mutations, genetic testing, using either blood or saliva, is used to determine a person’s future risk for breast and other cancers. For people who have already received a breast cancer diagnosis, genetic testing may provide additional information with regard to treatment options.

The most commonly detected gene mutations associated with breast cancer are in the BRCA1 or BRCA2 genes. BRCA stands for BReast CAncer susceptibility gene. Normally, BRCA genes prevent tumors from growing by repairing damaged DNA. When a BRCA mutation is present, these genes may not work the way they are supposed to, and as a result, cells may grow and divide to form a tumor.

Immediate family members of a person who tests positive for an inherited mutation should consider genetic testing. There is a 50% chance that a first-degree relative may also have the genetic mutation. Anyone who is concerned about their risk should speak to their doctor or a genetic counselor about whether genetic testing is right for them.

Where to find support

A breast cancer diagnosis can be frightening and confusing. It’s important for people with breast cancer to find resources and support to learn about their disease and to feel empowered to take an active role in fighting their cancer. There are a wide variety of services available at the national and local levels to help with everything from finding a support group to caregiver services and finding rides to medical appointments.

It can be particularly helpful to share experiences and get advice from others who have experienced breast cancer. Support groups can offer a safe forum to exchange perspectives, concerns and information to help patients navigate the challenges they may face living with cancer. Peer support can also give patients the tools to have better, more productive conversations with their health providers. Importantly, finding the right support can help patients feel less alone in their journey.

For more information about BRCA gene mutations and breast cancer, visit https://www.bebrcaware.com.

Author Profile

The Editorial Team at Lake Oconee Health is made up of skilled health and wellness writers and experts, led by Daniel Casciato who has over 25 years of experience in healthcare writing. Since 1998, we have produced compelling and informative content for numerous publications, establishing ourselves as a trusted resource for health and wellness information. We aim to provide our readers with valuable insights and guidance to help them lead healthier and happier lives.