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Exploring Genetic Testing for Breast Cancer

Last updated: October 23, 2023

We talk [people] through genetic testing. The reality is their results could impact multiple individuals, not just the person who is sitting in front of us.

Alyson Krokosky, Genetic Counselor, ThedaCare Cancer Care

Knowledge is power, especially when it comes to managing health risks, including breast cancer.

Approximately 10% of individuals with breast cancer may have been born with an increased risk to develop the disease, according to the American Cancer Society (ACS). Experts have found that mutations in two genes — BRCA1 and BRCA2 — increase a person’s risk for breast cancer.

“The BRCA1 and BRCA2 genes are tumor suppressor genes,” says Alyson Krokosky, a Genetic Counselor with ThedaCare Cancer Care. “When functioning properly, they help protect us from getting certain cancers, particularly breast and ovarian cancer. People who inherit a pathogenic variant, commonly referred to as a mutation, in those genes and certain other genes are at a greater risk for developing breast and other cancers.”

Everyone has two copies of the BRCA1 and BRCA2 genes: one inherited from their mother, the second from their father.

“If an individual has one non-working copy of either BRCA1 or BRCA2, they are at increased risk for certain cancers,” Krokosky says. “However, it is not a guarantee that the individual will develop cancer over their lifetime.”  

About 3% of breast cancers and 10% of ovarian cancers in women result from these gene mutations, according to the Centers for Disease Control and Prevention. Men are susceptible to breast cancer as well. The ACS estimates 2023 will bring as many as 2,800 new cases of invasive breast cancer in men, with 530 deaths.

Genetic Testing

Krokosky says any woman or man who has a significant incidence of breast cancer in one side of their family might be a candidate for genetic testing.

“Within ThedaCare we use the guidelines from the National Comprehensive Cancer Network (NCCN) and other organizations, which have developed certain hereditary cancer genetic testing criteria,” Krokosky says.

Those guidelines continue to evolve. They state that most of the following individuals are eligible for genetic testing:

  • Women diagnosed with breast cancer at age 50 or younger
  • Women diagnosed with triple negative breast cancer
  • People who have three or more individuals on the same side of their family closely related to one another who have had breast cancer, regardless of age of diagnosis 
  • Men diagnosed with breast cancer

“It’s important to note that this is not an exhaustive list and others might qualify as well, depending on their specific situations,” Krokosky says. “It includes people who have received a cancer diagnosis, as well as those who may not yet be affected, but who have a significant family history.”

Some people think that if an incidence of cancer is on their father’s side, they don’t need to worry, Krokosky says. That’s not the case. BRCA mutations increase the risk for multiple types of cancer, including cancers that affect males.

In addition, inherited gene mutations other than BRCA1 and BRCA2 can cause breast and ovarian cancer.

“The NCCN now recommends checking [other] genes as well,” Krokosky says. “We routinely have those genes included when doing genetic testing.”

Another consideration: A woman who is considered at high risk for breast cancer and had genetic testing 10 or more years ago may benefit from having updated testing.

“Perhaps they didn’t have a BRCA1/BRCA2 mutation and still had a significant family history,” Krokosky says. “A mutation in one of the more newly identified genes could provide an explanation for their family history and may affect how they plan their ongoing medical screening.”

Cost of Testing

Krokosky says most insurance plans cover the cost of an initial genetic counseling session for those who qualify.

The health care team reviews the individual’s personal health history as well as their family history. They do an assessment and compare the person’s situation to national guidelines and the individual’s insurance guidelines. That helps determine if the person meets the criteria for consideration of genetic testing.

“We talk them through genetic testing — what it involves, what information we might get back, and how those results might impact an individual or their family members,” Krokosky says. “The reality is their results could impact multiple individuals, not just the person who is sitting in front of us.”

Individuals do the test via a saliva sample or blood draw, and the specimen goes to a genetic testing laboratory. If a person comes in for genetic counseling and elects to move forward with testing, they can typically do genetic testing that same day. It takes about three to four weeks to get results back.

“In the end, the test results won’t tell the person if they have cancer,” Krokosky says. “Rather the results will let them know if they are at increased risk and should consider additional or earlier screening. In some cases, genetic testing results may impact a patient’s treatment plan if they have already been diagnosed with cancer.”

Types of Results

Three types of results may come back following genetic testing.

A positive result indicates the person has a mutation and is at increased risk for cancer. A negative result indicates the person doesn’t have any changes in their genes that would put them at increased risk.

Results can also come back as inconclusive. This means the testing found something different than expected, but there’s not enough data to know if that particular gene change puts someone at increased risk for cancer. Gene changes don’t automatically mean there’s a problem. They’re often just part of what makes us unique individuals.

For individuals who get a positive result, genetic counselors are there to help.

“They can be a resource to help them process what that information means for them and their family and provide immediate support,” Krokosky says.

Learn more about services available through ThedaCare Cancer Care

Tags: BRCA1 BRCA2 breast cancer genetic testing

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