Genetic testing has changed how we understand and treat diseases, including cancer. By looking at changes (mutations) in our DNA, we can determine if someone is at higher risk for certain cancers. This helps give patients more personalized care and treatment, also known as precision medicine.
Breast cancer, which affects millions of people, is one area where genetic testing has made a big difference. About one in eight women in the U.S. will get breast cancer in their lifetime, so finding it early is very important.
“Knowing your cancer risk is powerful. This knowledge allows people to better understand their chances of developing cancer in the future, so they can then make informed decisions about cancer preventive measures, early detection and treatment options,” said Vilert Loving, MD, chief of breast imaging at Banner MD Anderson Cancer Center. “Identifying mutations in genes early can lead to more personalized care, such as more intensive breast cancer screening or cancer risk-reducing medications or surgeries.”
If you or someone you know is considering genetic testing for breast cancer, you’re not alone. Many people want to know if they’re at risk due to family history or other factors. Read on to learn the basics of genetic testing for breast cancer, what to expect and how it can help you make informed decisions about your health.
Understanding your genes and breast cancer risk
Our genes are like a blueprint that tells our body how to function. Sometimes, changes or mutations in genes can increase the risk of certain diseases, including breast cancer.
For example, BRCA1 and BRCA2 are genes that help repair damaged DNA. If these genes have mutations, they may not work properly, increasing the risk of breast cancer. BRCA1 and BRCA2 are the most common and well-known causes of hereditary (genetic) breast cancer, but multiple genetic mutations affect risk.
“We know of 19 genes that are routinely associated with breast cancer,” said Jennifer Siettmann, MS, CGC, a certified genetic counselor with Banner MD Anderson Cancer Center. “This includes ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NF1, PALB2, the Lynch syndrome genes and others.”
Genetic testing can provide valuable information about your risk by identifying these mutations.
Types of genetic tests
Different types of genetic tests are available, but one of the most comprehensive options is the multigene panel test. This looks at multiple genes at once, which can provide a more complete picture of your cancer risk.
“Because many genetic mutations can result in the same type of cancer, it is often difficult to know which genetic mutation may be the cause of a patient’s heritable breast cancer,” Dr. Loving said.
“It’s hard to tell the difference between a BRCA, ATM, RAD51C/D and PALB2 family just by looking at the cancers in the family because they are all linked to very similar cancers,” Siettmann said. “Given that the cost of single-gene and multigene testing is often the same, there is no reason not to order the panel.”
Who should consider genetic testing?
Deciding who should get genetic testing can sometimes be difficult because different insurance companies have different rules. However, Siettmann shared some simple guidelines to consider:
- Multiple cases: If your family has three or more cases of the same or similar cancers.
- Young age: If cancer was diagnosed in family members before age 50.
- Rare cancers: If someone in your family had a rare cancer like ovarian, pancreatic or prostate cancer and male breast cancer.
Some health care institutions offer programs that screen patients before their regular mammograms to determine whether they should undergo genetic testing.
It's important to note that guidelines for genetic testing are constantly changing and expanding, which means more people may qualify for testing than before.
“For example, in the past, if you had a relative with breast cancer, they had to be diagnosed before age 45 for you to be eligible for testing,” Siettmann said. “That age has now been raised to 50, making more people eligible. If you didn’t meet the criteria before, it’s worth asking your provider if you do now.”
Misconceptions about genetic testing
Several misconceptions about genetic testing might make you hesitate or delay testing. One common myth about genetic testing is that if you don’t have a family history of breast cancer, you’re not at risk.
“In reality, about 75% of breast cancer cases happen in people with no family history,” Dr. Loving said. “This means that even if your family has no history of breast cancer, it’s still important to get regular screenings and talk to your provider about any concerns.”
Other common misconceptions include:
- Cancer risk from your dad’s side doesn’t count: Since you inherit genes from both parents, it’s important to consider both sides of your family’s health history.
- Over-the-counter (OTC) tests are just as accurate as those available from your doctor: Direct-to-consumer tests often check only a few genes and mutations. Medical-grade tests ordered by providers look at thousands of mutations per gene.
- Genes can skip generations: They don’t. If a genetic mutation is present, it will either be inherited or not — there’s no skipping.
- Genetic testing is expensive: While it used to be costly, most people with insurance who qualify now pay less than $100 and even those paying out-of-pocket usually pay around $250.
Working with a genetic counselor
If you decide to undergo genetic testing, a genetic counselor can be a valuable resource. These professionals are trained to help you understand the testing process, what your results mean and how they may affect your health and family. They are also skilled in providing emotional and psychosocial support.
“Your genetic counselor should be your first call for dealing with any feelings that arise from your test results,” Siettmann said. “Whether you feel disappointment, anxiety, fear or even anger about a gene mutation diagnosis, genetic counselors help you adapt and adjust.”
They can guide you through the next steps and connect you with additional resources, ensuring you feel supported and informed throughout the process.
Understanding and using the results
Once you receive your genetic testing results, it’s important to understand what they mean and how to use this information. Your genetic counselor will help you understand the results and discuss your options for managing any identified risks. They can also help you create a plan for regular screenings, preventive measures and lifestyle changes.
“Beyond working with your genetic counselor, getting involved with a support group can be very helpful,” Siettmann said. “National groups like FORCE offer local support, online resources, chat rooms, lecture series and even conferences.”
These organizations focus on helping individuals heal and adapt to their genetic information. They provide a community of people who understand what you’re going through, which can be comforting.
While family support is important, having someone outside the family – like a friend – to talk to can provide a different perspective and help you process your emotions more openly. “Family members might also be dealing with their own concerns, so a friend or partner can offer a supportive, neutral space,” Siettmann said.
The importance of mammograms
No matter your genetic risk, regular mammograms are a key part of maintaining breast health. Early detection is important in the fight against breast cancer. Mammograms can detect tumors before they become symptomatic.
For women at average risk for breast cancer, Banner MD Anderson recommends annual mammograms starting at age 40.
“For women with a higher breast cancer risk, additional breast cancer screening options may be appropriate,” Dr. Loving said. “Anyone with concerns about their breast cancer risk should discuss screening options with their health care provider or a genetic counselor.”
Along with regular screenings, stay informed about changes in your body. Discuss any concerns with your health care provider, who can help you take proactive steps in managing your health.
Conclusion
Genetic testing for breast cancer can provide valuable insights into your risk and help you make informed decisions about your health. Whether you’re considering testing for yourself or supporting a loved one, understanding the process and potential outcomes can help.
Remember, you’re not alone on this journey. Health care providers, genetic counselors and support networks are here to help you every step of the way.
Talk to your health care provider or a Banner Health specialist if you have any questions or concerns. The Banner MD Anderson High-Risk Breast Cancer Clinic is an additional resource to determine your breast cancer risk and risk reduction options.
