Healthline contributor Cathy Cassatt 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.
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 80Trusted Source. 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 the same gene, and if positive, could consider preventive measures.
Hillary Knowles, DNP, genetic counselor at Northwest Community Healthcare part of North Shore University Health System, 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.
Road to testing and retesting
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 Ha idle 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. Cancer, an expert with the National Society of Genetic Counselors, said the psychological impact of testing is something for everyone to consider before getting tested.
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,” Ha idle said.
In 2010, the timing felt right for me.
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