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October 27, 2023

Breast Cancer Awareness Month: Identifying a Genetic Predisposition for Cancer

ThedaCare Genetic Counselor Explains What People Should Understand about Gene Mutations

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). Since the mid-1990s, mutations in two genes – the BRCA1 and BRCA2 genes (BReast CAncer 1 and 2) – have been identified as potentially increasing a person’s risk for breast cancer.

“The BRCA1 and BRCA2 genes are tumor suppressor genes,” explained Alyson Krokosky, a genetic counselor at the ThedaCare Regional Cancer Center in Appleton. “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.”

Krokosky explained that 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,” she said. “However, it is not a guarantee that the individual will develop cancer over their lifetime.”  

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

Krokosky said 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 said.

Those guidelines continue to evolve, and currently state most of the following individuals are eligible for genetic testing:

  • Females who has been 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 who has been diagnosed with breast cancer.

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

She noted a family history of breast or ovarian cancer on mom or dad’s side of the family should be considered.  

“Some people think that if it’s on their father’s side they don’t need to worry,” she said. “That’s not true. Also, BRCA mutations increase the risk for multiple types of cancers, including cancers that affect males.”

Breast and ovarian cancer can also be caused by inherited mutations in genes other than BRCA1 and BRCA2. In recent years, other genes have been identified as contributing to susceptibility. These include the PALB2 gene, as well as CDH1, PTEN, STK11 and TP53.

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

Krokosky added that 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,” she explained. “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.”

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

“Beyond that, once we review the individual’s personal health history as well as their family history, we do an assessment and compare their situation to national guidelines and their insurance company’s guidelines to determine if they meet the criteria for consideration of actual testing,” she said. “We talk them through genetic testing – what it involves, what information we might get back, how those results might impact an individual or their family members. The reality is their results could impact multiple individuals, not just the person who is sitting in front of us.”

Testing is done via a saliva sample or blood draw and the specimens are then sent to a genetic testing laboratory.

“If a person comes in for genetic counseling and elects to move forward with testing, we can typically collect the sample needed that same day,” she said. “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; 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.”

Krokosky explained there are three types of results that may come back.

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

She also noted that at times there is an ‘inconclusive’ result. It’s officially referred to as ‘a variant of uncertain clinical significance.’ It means the testing found something different than they were expecting, and there’s not enough data to know if that particular gene change actually 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.

Krokosky said if a person gets a positive result, a genetic counselor can be a resource to help them process what that information means for them and their family and provide immediate support.

About ThedaCare

For more than 110 years, ThedaCare® has been committed to improving the health and well-being of the communities it serves in Northeast and Central Wisconsin. The organization delivers care to more than 650,000 residents in 17 counties and employs approximately 7,000 providers and team members. ThedaCare has 180 points of care, including eight hospitals. As an organization committed to being a leader in Population Health, team members are dedicated to empowering people to live their unique, best lives. ThedaCare also partners with communities to understand needs, finding solutions together, and encouraging health awareness and action. ThedaCare is the first in Wisconsin to be a Mayo Clinic Care Network Member, giving specialists the ability to consult with Mayo Clinic experts about a patient’s care. ThedaCare is proud to partner with Children’s Wisconsin and Froedtert & the Medical College of Wisconsin health network to enhance convenient access to the most advanced levels of specialty care. ThedaCare is a not-for-profit health system with a level II trauma center, comprehensive cancer treatment, stroke and cardiac programs, as well as primary care.

For more information, visit or follow ThedaCare on social media. Members of the media should call Cassandra Wallace, Public and Media Relations Consultant at 920.442.0328 or the ThedaCare Regional Medical Center-Neenah switchboard at 920.729.3100 and ask for the marketing person on call.