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Should I get tested for breast cancer genes?

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Mutations to certain genes, such as BRCA, can increase your odds of getting breast cancer. Testing for them might seem like a no-brainer. But experts say it’s not always needed or helpful. Here’s what you need to know. 

Almost everyone knows of someone who’s had breast cancer. And if you are a woman in America, there is a 1 in 8 chance you will get breast cancer in your lifetime1. It’s no wonder, then, that we want to do everything we can to prevent it. These days, that could even include DNA testing.

We’ve known for a long time that family history increases your chance of getting cancer. About 5% to 10% of breast cancers cases are hereditary. Now we also know that variants of specific genes are linked to breast cancer. And they increase your risk a lot. Women with these variants are five to six times more likely to have breast cancer.2

That can feel scary, but doctors see good news. “I think there’s a lot to feel hopeful about,” says Francisco A. Garcia-Moreno, MD. He chairs the department of oncology and hematology at ProHEALTH, part of Optum, in New Hyde Park, New York. “Not too long ago, we really didn’t have a clue. I would say that we’re still in the infancy now. But we are learning how to find these genes in a large population.”

Should you sign up for testing, even if breast cancer doesn’t run in your family? We break down all the basics so that you can make the right decision for you.

Which genes are linked to breast cancer?

The most well-known genes linked to breast cancer are BRCA1 and BRCA2. BRCA stands for BReast CAncer. They’re also linked to other cancers. These include ovarian, pancreatic and prostate cancers, and possibly others.1

All women and men have these genes. When working normally, they help stop cancers from forming. But variants of these may not do their job as well, which raises your risk of cancer. About 50% of women with a BRCA gene variant will get breast cancer by the time they’re 70. And about 30% will get ovarian cancer. Luckily, BRCA gene variants are rare. Only about 1 in every 500 women have one.4

Other genes have also been linked with breast cancers. These are called:

  • PALB 2
  • TP53
  • ATM
  • CHEK2

Variants in these genes are less common than in BRCA.5

Who should get tested?

Experts say that genetic testing is not needed for most people.2 But if you have a personal or family history of certain cancers, talk to your doctor. Cancer genes pass from parents to children. Your family history can tell you if you’re more likely to have one. “Your doctor should take the time to understand your history,” says Dr. Garcia-Moreno. “That will give you so much information.”

Based on your family history, your doctor may suggest genetic testing. Or they may send you to a genetic counselor. They have special training in inherited medical problems, including cancer. You’re more likely to have a breast cancer gene if:3

  • Someone in your family has a BRCA or other gene variant
  • You or a close family member has ovarian, pancreatic or prostate cancer
  • More than one person in your family has had breast cancer
  • Someone in your family got breast cancer at a young age (under 50)6
  • You have a male family member who has had breast cancer

If you already have breast cancer, your doctor may want to see if a gene variant is to blame. Test results can help your doctor decide on the best way to care for your cancer. “It’s not just for screening,” explains Dr. Garcia-Moreno. “It’s also for therapy.” It can also help your close relatives know if they’re at risk. Your doctor may suggest genetic testing if:3

  • You were diagnosed at a younger age (under 50).
  • You have “triple-negative” cancer. This is a more aggressive type of breast cancer. It’s more common in women with a BRCA variant.7
  • You’ve been diagnosed with a second breast cancer (not a recurrence of the first cancer).
  • You are of Ashkenazi Jewish descent.
  • You have family members who’ve had breast cancer, especially at a younger age or in men.
  • You have family members who’ve had ovarian, pancreatic or prostate cancer.

What are my testing options?

Genetic tests are easier to get than ever before. All it takes is a sample of blood or saliva. Dr. Garcia-Moreno recommends going to your doctor first. They can learn about your history and determine if testing is right for you. And they can help you understand the results of your test.

You can also opt for an at-home testing kit. With most kits, you take a sample with a cheek swab or your saliva and return it for lab testing. These tests are easy to do. But they may not include all the genes or variants that can give the clearest answers. They also can’t help you understand your results.

If you choose to do an at-home test, you should also talk to your doctor or a genetic counselor. “If you find something, you really need to talk to a professional,” says Dr. Garcia-Moreno.

What should I do if I have a gene variant?

Your doctor or genetic counselor will help you make a plan. “Fortunately, there are lots of things we can do to reduce the risk of developing breast cancer,” says Dr. Garcia-Moreno.

Your doctor will likely start screening you early and more often for breast, ovarian and other cancers. (Learn more about your options at Cancer Screen Week.) There are medications that can lower breast cancer risk as well. Surgery is a choice, too. Some women may choose to have surgery to remove their breasts or ovaries.8

These decisions are highly personal. “The plan depends on the situation,” says Dr. Garcia-Moreno. Your doctor or genetic counselor can help walk you through your options. And they’ll help you make the decision that’s best for you. 

Join the WISDOM study. This groundbreaking study is testing a personalized approach to breast cancer screening versus annual mammograms. It's easy to join and you complete most of it online. Learn more.

Can I still get breast cancer if I don’t have any gene variants?

A negative result is certainly good news. But it doesn’t mean that you have zero risk. You could have gene variants that are unknown. Or you have variants that aren’t tested for yet. Or you could have other risk factors unrelated to your genes.

Breast cancer is one of the most common cancers in women. And remember, only about 5% to 10% of cases are hereditary.1 Talk to your doctor about other risk factors you may have. Certain behaviors can also lower your risk. If you drink, do so only in moderation. Be physically active. And maintain a healthy weight. (Learn more about how to prevent cancer.)

You could also have a gene variant that doctors know little about.1 In this case, Dr. Garcia-Moreno says you should follow up with your genetic counselor. “Get in touch with them on a yearly basis to see if there’s new information,” he says. “There are plenty of genes we haven’t identified yet, so things could change.”

A genetic test doesn’t answer every question. But it’s one way to help you and others in your family take charge of your health. “Science is a tool that we can use to make our lives better,” says Dr. Garcia-Moreno. “It can help us live healthier and more prosperous lives.”

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  1. National Cancer Institute. “Breast Cancer Risk in American Women.” Reviewed December 16, 2020. Accessed August 22, 2022.
  2. National Cancer Institute. “BRCA Gene Mutations: Cancer Risk and Genetic Testing.” Reviewed November 19, 2020. Accessed August 22, 2022.
  3. American Cancer Society. Genetic counseling and testing for breast cancer risk. Last revised December 16, 2021. Accessed August 4, 2022.
  4. Centers for Disease Control and Prevention. BRCA gene mutations. Last reviewed September 27, 2021. Accessed August 4, 2022.
  5. American Cancer Society. Breast cancer risk factors you cannot change. Last revised December 16, 2021. Accessed August 4, 2022.
  6. Centers for Disease Control and Prevention. “Groups at Higher Risk for BRCA Gene Mutations.” Reviewed September 27, 2021. Accessed August 22, 2022.
  7. American Society of Clinical Oncology. Hereditary breast and ovarian cancer. Published November 2020. Accessed August 4, 2022.
  8. American Cancer Society. Can I lower my risk of breast cancer? Last revised December 16, 2021. Accessed August 4, 2022.

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