Genetic Testing for Breast Cancer
If you’ve had cancer before or there’s a history of cancer in your family, you may want to consider genetic testing for breast cancer. Genetic testing looks for changes in genes, called mutations or pathogenic variants. Certain genetic mutations are linked to a higher risk of breast cancer.
Genetic test results can:
help you and your doctor decide if there are steps you want to take to lower your breast cancer risk, as well as the risk of other potential cancers
help guide your treatment choices if you’ve already been diagnosed with breast cancer
Genetic test results can’t tell you if you will get breast cancer.
It’s important that you take your time before you have genetic testing to consider what knowing your genetic information might mean for you personally. There are trained medical professionals, including genetic counselors, who can help you:
create a family tree of cancer diagnoses
weigh the pros and cons of genetic testing
explain the different types of genetic tests
understand genetic test results
BRCA and other gene mutations
Approximately 5% to 10% of breast cancer cases are hereditary, meaning that they’re caused by a genetic mutation inherited from a parent. Inherited mutations are called germline mutations. Two of the most well-known genetic mutations linked to breast cancer risk are changes in the BRCA1 and BRCA2 genes.
A small portion of mutations aren’t inherited from a parent, but happen during a person’s life as a result of the natural aging process or exposure to chemicals in the environment. These are called de novo mutations. It’s important to know that de novo mutations then can be passed from parent to child.
When a gene such as ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, RAD51C, RAD51D, STK11, or TP53 has a mutation, it doesn’t work properly, which can increase the risk of cancer and other diseases. People with one of these inherited gene mutations have a higher-than-average lifetime risk of developing breast cancer. Depending on the gene, a person also may have a higher risk of ovarian cancer or certain other cancers.
Should you get genetic testing?
A good place to start when considering genetic testing is to complete a breast cancer risk assessment with your doctor. In 2023, the American College of Radiology advised that all women receive a breast cancer risk assessment by age 25. This can help you decide when to start regular breast cancer screening and can also help you figure out if you’d like to meet with a genetic counselor to discuss genetic testing.
Cancer groups have also issued recommendations on who they think might benefit most from genetic testing. In 2024, the American Society of Clinical Oncology and the Society of Surgical Oncology issued recommendations saying that anyone newly diagnosed with breast cancer who is age 65 or younger should be offered BRCA1 and BRCA2 testing.
The 2025 National Comprehensive Cancer Network (NCCN) guidelines on genetic testing for breast cancer recommend that anyone diagnosed with breast cancer at age 50 or younger should have genetic testing for specifically for mutations in the BRCA1, BRCA2, CDH1, PALB2, STK11, and TP53 genes. These guidelines, which are followed by many U.S. doctors and clinics, also recommend genetic testing for:
people diagnosed with breast cancer at any age who have a family history of certain breast, ovarian, pancreatic, or prostate cancers
people diagnosed with breast cancer whose treatment choices could be influenced by genetic test results
people diagnosed with triple-negative breast cancer
people diagnosed with more than one breast cancer, where the second cancer isn’t a recurrence
men diagnosed with breast cancer
people diagnosed with lobular breast cancer with a family history of stomach cancer
people diagnosed with breast cancer who are of Ashkenazi Jewish (Eastern European) ancestry
Based on your breast cancer risk assessment, your personal and family history, and other risk factors you may have, your doctor or genetic counselor may suggest you have genetic testing.
A 2023 study found that only about 7% of people diagnosed with cancer in California and Georgia had genetic testing, even though it was recommended for them. If you’ve been diagnosed with breast cancer and genetic testing isn’t recommended for you, you may want to ask your doctor or meet with a genetic counselor and ask why.
A 2024 study found that about 3% of about 836,000 people in northern Nevada met the criteria for genetic testing based on family history, but hadn't had testing. If one of your family members has had genetic testing, it's a good idea to talk to them about the results and ask your doctor or a genetic counselor if testing makes sense for you.
Breast cancer risk for people who are transgender or intersex can vary depending on factors such as family history and exposure to certain hormones. It’s important to discuss breast cancer risk with a doctor and a genetic counselor who makes you feel comfortable so you can determine whether genetic testing makes sense for you.
What to expect with genetic testing
Genetic testing can be done on several types of samples, including blood, saliva, and skin. A genetic counselor can advise you on which sample is best for the type of genetic test you’re having. This sample is then sent to a lab, where it can take several weeks to process.
Typically, labs send genetic test results to your doctor or genetic counselor so they can help you understand your results and explain your options if you test positive for a genetic mutation linked to a higher risk of breast cancer.
How to find a genetic counselor
Many hospitals and cancer centers have genetic counselors on staff. If you live in a remote area or find it difficult to travel, you can find genetic counselors who are available for phone or virtual visits. The National Society of Genetic Counselors directory allows you to search for genetic counselors who offer telehealth appointments.
You can also meet with a doctor or nurse who specializes in genetics and cancer, depending on the resources available in your hospital or cancer center.
To help you get started, we’ve developed some questions you may want to ask your genetic counselor.
How to prepare for and what to expect with genetic counseling
To prepare for genetic counseling, you need to obtain a copy of your medical history, including whether you’ve been diagnosed with breast or other cancers. If possible, it’s a good idea to bring a list of anyone on either side of your family who has been diagnosed with any type of cancer. With this information, a genetic counselor can help you understand your risk of an inherited gene mutation and offer advice on the genetic test that makes the most sense for you.
Genetic testing costs
The cost of genetic testing can range from less than $100 to more than $2,000, depending on the type of test you have.
Check with your health insurance plan to confirm whether it covers genetic testing and counseling and what information you may need to provide for coverage. Your genetic counselor’s office or doctor’s office also may be able to help.
When you schedule your appointment, the office can give you the procedure code for genetic counseling and testing so you can run it by your health insurance company.
Insurance coverage for genetic testing is separate from the fee for genetic counseling.
If you don’t have health insurance or your health plan offers partial or no coverage, you might be able to apply for financial assistance through the genetic testing company or the cancer genetic testing program at your hospital.
For more information about hereditary cancer, genetic testing, genetic counseling, support, financial assistance, and low-cost genetic testing, you can check FORCE (Facing Our Risk of Cancer Empowered), a Breastcancer.org partner.
Genetic testing and family relationships
Genetic testing helps you determine your personal risk of developing cancer. But your results have implications for your family members, too, whether or not they opt for testing.
Genetic test results and privacy
The 2008 Genetic Information Nondiscrimination Act (GINA) protects U.S. citizens from being discriminated against by health insurers and potential employers because of genetic information.
But it’s very important to know that GINA does not apply to companies with fewer than 15 employees or to the U.S. military, which has its own set of protections. GINA also does not apply to insurance companies that offer life, disability, or long-term care insurance plans. It’s a good idea to secure these types of plans before having a genetic test.
Residents of other countries should find out what their legal rights are and see if they are protected by non-discrimination laws similar to GINA.
— Last updated on March 29, 2025 at 6:12 PM