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Published on November 01, 2017

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Breast Cancer & BRCA – The Importance of Genetic Testing

Over the past 25 years, genetic research has discovered that certain inherited genetic mutations – or changes in a gene that are passed down from one generation to the next – can put a person at higher risk for developing particular types of cancer.

Today, we’re going to focus on two of the most well-known and common genes related to breast cancer – BRCA1 and BRCA2.

Why are BRCA genes important when it comes to breast cancer?

“Cancer is always genetic, which means that it’s a problem at the gene level,” describes Kayla York, LCGC, cancer Genetic Counselor at Avera Cancer Institute. “But cancer is rarely hereditary, which means it was a gene mutation passed down from a parent.”

For example, only 5 to 10 percent of individuals with breast cancer carry a high-risk inherited gene, such as BRCA.

“We all have BRCA1 and BRCA2 genes,” says Amy Krie, MD, a breast oncologist at Avera Cancer Institute in Sioux Falls, SD. “It’s when there’s a specific mutation in the BRCA1 or BRCA2 gene that a person has a higher risk of breast cancer and also ovarian cancer.”

It’s important to note that for those who carry high-risk genes, it doesn’t mean that they’re born with cancer. They simply have a higher risk of developing cancer in their lifetime.

When it comes to high-risk genes for breast cancer, BRCA1 and BRCA2 are only the beginning. An additional 18 hereditary high-risk genes have been identified and can be tested for today. 

“BRCA was the initial tip of the iceberg,” adds Krie. “We now know of other genes which also run in families that can increase the risk of breast cancer. They may not be as high-risk as BRCA1 and BRCA2, but it’s still important to be aware of them.”

Should I consider genetic testing for breast cancer?

Although it’s rare to have an inherited high-risk gene for breast cancer, it’s highly recommended that you consider genetic testing and counseling if your personal or family history includes any of the following:

  • Breast cancer diagnosis that occurs younger than 50 years old
  • Family history of a known gene mutation, including BRCA1 or BRCA2
  • Jewish ancestry and family history of breast or ovarian cancer
  • More than one cancer in the same family member
  • Multiple family members with breast, ovarian and/or pancreatic cancer
  • Rare cancers, such as male breast cancer, ovarian cancer, pancreatic cancer or sarcomas

“If you have any of those high risk factors, you should certainly meet with a board-certified genetic counselor,” recommends Krie. “Genetic testing is complicated so having a professional to guide you through all of the implications and the variety of options is really important. They’ll be able to recommend what testing should be done based on your family history and your goals of testing.”

York adds that testing is just as important for men with the risk factors because they’re just as likely to carry a BRCA gene mutation. “We can’t forget the men in the family,” she says. “They too can carry the BRCA mutations, which put them at risk for male breast cancer and more aggressive types of prostate cancer. They can also pass it on to their daughters,” she says. 

What happens if I receive a positive result?

Knowing whether or not you carry a high-risk inherited genetic mutation empowers you with the information you need to choose the best breast cancer screening options for you.

Cancers related to BRCA1 and BRCA2 genetic mutations typically grow more quickly, so if you test positive for one of them, you’ll receive a recommendation for earlier and more frequent screenings – such as mammograms and breast MRIs.

“With more frequent screenings, we can catch cancer earlier when it’s more treatable,” says York. “We might even be able to stop a cancer from ever happening with preventive surgery.”

If you do receive a breast cancer diagnosis, knowing whether or not you carry specific genetic mutations can help pinpoint the most effective treatment with the least chance of recurrence.  

“For a woman with breast cancer and one of the high-risk gene mutations, her chance of developing another breast cancer in the future is higher so she may choose a double mastectomy to reduce that risk significantly,” explains York. “If she chooses to have the lumpectomy, then we can recommend more frequent high-risk screening options.”

Krie adds that it also impacts the chemotherapy side of treatment. “Because we know that those genes react differently to specific chemotherapies, we’re able to used targeted therapies against them.”

Krie and York work closely together – combining their expertise in oncology and cancer genetics – to optimize cancer screening and treatment.  

How do I get started?

Anyone interested in cancer genetic testing and counseling can schedule a consultation with York. After discussing your medical and family history, she can provide the insight you need to decide if genetic testing is right for you and your family. She’ll also discuss insurance coverage and the cost of testing. To get started, ask your provider for a referral to see York at Avera Medical Group Comprehensive Breast Care clinic.

Genetic testing and counseling may be covered by insurance. To find out more, contact your insurance provider and ask about cancer genetic testing.

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Avera is a health ministry rooted in the Gospel. Our mission is to make a positive impact in the lives and health of persons and communities by providing quality services guided by Christian values.

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