Healthline contributor Cathy Cassata shares why she decided to undergo genetic testing for breast cancer gene mutations a second time after receiving a negative result on her first test 12 years ago.

Cathy Cassata (left) and her mother (right) at the Susan G. Komen Breast Cancer Walk. Share on Pinterest
Cathy Cassata (left) and her mother (right) at the Susan G. Komen Breast Cancer Walk. Photography courtesy of Cathy Cassata

There are many intangible gifts that my mom gave me which I carry close to my heart — lessons of love and trust and kindness and courage. But a few weeks before she passed away from breast cancer in March 2007, she made it a point to leave behind her most practical gift ever.

While in the hospital, she arranged for her doctor to test her for the BRCA1 and BRCA2 inherited gene mutations, which can lead to abnormal cell growth and cancer.

She wanted me and my sister to know whether or not an inherited gene mutation was likely the cause of breast cancer for the generations of women in her family. Her great aunt, aunt, mom, and sister were all afflicted by the same disease beginning in their 30s.

Although a family history was obvious, my 61-year-old mom was the first one in her family to be tested for the genetic component. This was mainly because she was the longest living survivor.

Her younger sister died 8 years earlier at 52-years old before genetic testing was standard and her mother died when my mom was just 6-years-old, long before genetics was on anyone’s radar.

My mom’s test came back positive for an inherited mutation in BRCA2.

Those who inherit this gene mutation have a higher risk of getting breast, ovarian, prostate, and other types of cancer.

In fact, the American Cancer Society (ACS) reports that those who test positive for BRCA1 or BRCA2 gene mutation have up to a 7 in 10 chance of getting breast cancer by age 80. Given my mom’s personal cancer history and family history, her doctors determined BRCA2 gene mutation was most likely the cause of her cancer.

Learning my mom carried the BRCA2 mutation meant my sister and I had a 50 percent chance of carrying the gene, as well. The good news was that knowing this meant we could be tested for same gene, and if positive, could consider preventive measures.

Hillary Knowles, DNP, genetic counselor at Northwest Community Healthcare part of NorthShore University HealthSystem, explained that preventive measures which can lower risk of breast cancer might include:

  • Medications
  • Diet and lifestyle changes
  • Risk reducing mastectomies

“Some patients do discuss risk reducing mastectomies; however, those are not usually routinely done as they once were because with the introduction of the breast MRI, cancers can be found a lot sooner [leading to] lumpectomy or less invasive procedures,” Knowles told Healthline.

While I knew testing positive could lead to preventive measures, I wasn’t sure when I would be ready to face those decisions, if needed.

A few months after our mom died, my sister got tested for a gene mutation in BRCA2 and learned she was negative.

Despite the encouraging news, I decided to wait a few years before testing. I was three months pregnant with my first child when my mom passed away and I didn’t want the additional stress and anxiety of getting tested at an already difficult time.

Plus, I hoped to have another child and felt that if I tested positive, I wouldn’t take preventive measures until after I was done childbearing.

Joy Larsen Haidle, cancer expert with the National Society of Genetic Counselors, said the psychological impact of testing is something for everyone to consider before getting tested.

“Just because we have a fancy test does not mean that everyone will perceive benefit. If a person does not feel that they would do anything different with their care or that the results would make them feel anxious then there may not be a benefit to pursuing the test,” she told Healthline.

She added that some people don’t want to know their risk because they wouldn’t pursue risk reduction while others may look at test results as empowering and a means to take steps towards early detection or risk reduction.

“The discussion with a genetic counselor is important to ensure you have accurate information with which to base these important decisions. Some people come to realize that what they may have been afraid of was actually the unknown and not the test result itself,” Haidle said.

In 2010, the timing felt right for me.

That January, I gave birth to my second child and felt mentally able to handle a test result.

Six months later, I tested negative for a mutation in BRCA2. This meant that like my sister, I did not carry the gene mutation. My doctor recommended that I continue to receive annual mammograms, but that I didn’t need to take other preventive measures.

However, in February of this year, during a routine visit with my doctor, she suggested I see a genetic counselor about getting retested for cancer genes.

“Within the last five years, there’s been quite an explosion in knowledge and understanding in how different genes can be linked to other cancers, not just breast, so for those patients who specifically only had the one gene tested, we now know there can be linkages to other genes,” said Knowles.

Haidle pointed out that scientists have now identified roughly 36 strong, moderate, and preliminary evidence breast cancer genes available for testing on a clinical basis.

“Many of these genes have medical management recommendations for surveillance, risk reduction, and treatment decisions,” she said, adding that there is criteria in place to determine who is a candidate to receive genetic testing.

After talking with a genetic counselor, I learned that I qualified for current testing and decided to go ahead and get tested for the 36 genes associated with increased risks for 8 major cancers.

Before going through with it, the main hesitation I had was whether or not it made sense since I had already tested negative for the BRCA2 mutation 12 years prior.

“As genetic counselors, we review the technology used on the prior test in comparison to the current technology to determine if there were limitations of the prior test that could be improved with the new technology. We also look at the list of genes to determine if there are additional genes that are clinically available that would be reasonable to pursue based on someone’s personal or family history. There are times that we will find a mutation in a gene today even though the test was negative in the past,” said Haidle.

Understanding that more genes have been detected is ultimately what made me go through with it. In March, I tested negative for all 36 genes. Not only was this informative to me, but it also meant I could not pass any of these genes down to my children.

As part of the process, however, the genetic counselor determined that I have a 33.2 percent risk of developing breast cancer based on the Tyrer-Cuzick breast cancer risk assessment, which considers the following:

  • Age
  • Height and weight
  • Age when you started having periods
  • Obstetric history (if you’ve had your first child after the age of 30 or have never birthed a child)
  • Age of menopause
  • History of hormone replacement therapy use
  • Family history of breast cancer, including age when breast cancer was diagnosed

“Even though your results are negative, you are still at increased risk because of your family history,” explained Knowles. Anybody who has a 20 percent risk or higher based on the assessment qualifies for 3D mammogram and breast MRI screenings, she added.

My plan going forward will include each of these screenings six months apart.

Going through this process was enlightening and informative, as well as emotional at times. I felt a mix of sadness and gratitude. I was sad the women in my family before me didn’t get the same opportunity, yet grateful I was in a place and time that allowed me to embrace and access prevention tools.

The most empowering feeling that came from this, though, was knowing that I can leave my children with a similar gift as my mother left me: knowledge about part of their genetics.

If you are interested in genetic testing, talk to your gynecologist or primary care physician who can refer you to a genetic counselor in your area.

You can also search a directory on the website of the National Society of Genetic Counselors.