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What BRCA testing can do for you

Mom's death leads to sisters' gene testing


According to the National Cancer Institute, women with a mutated BRCA gene have a much higher risk of developing breast cancer during their lifetime. Around 55 to 65 percent of women with BRCA1 and 45 percent of women with BRCA2 will develop breast cancer by age 70.

“Only about 10 percent of breast cancers are related to genetic components,” said Christen Csuy, Novant Health genetic counselor. “However, it’s worth a conversation with your doctor if your mom, aunts or grandmothers have had breast cancer.”

When to test

Christal Byrne, a 35-year-old from Iron Station, North Carolina, was urged by her gynecologist to consider being tested for the BRCA gene mutation after her mother passed away from breast cancer at 47. Some indications may lead a physician to recommend genetic testing if there is a family history of:

  • Breast cancer diagnoses before age 50
  • Cancer in both breasts
  • Both breast and ovarian cancers
  • Multiple breast cancers
  • Two or more primary types of BRCA1- or BRCA2-related cancers in a single family member
  • Male breast cancer
  • Ashkenazi Jewish ethnicity

“My sister and I were both tested for the BRCA gene and both of us tested positive,” Byrne said. “We were on a rotating schedule of a mammogram every six months, followed by an MRI.”

Preventive measures

Both Byrne and her sister had full hysterectomies after being told it would lower their chances for breast cancer, as well as eliminate any chances of ovarian or cervical cancer. Byrne had her scheduled MRI in November 2013, and her scans came back normal. Byrne didn’t see the need to hurry and schedule a preventive double mastectomy.

However, Byrne’s gynecologist advised her to consider it. After a second opinion and significant research, she decided to move forward with a prophylactic (risk-reducing) mastectomy.

“A few days after my mastectomy, my oncologist told me they found three small spots of triple negative breast cancer,” Byrne said. “The oncologist told me I hit the lottery, as it would have been a whole other story if I had waited to have my mastectomy – like I had planned.”

Byrne’s prognosis is very good. She no longer has cancer.

“No cancer news is going to turn my life upside down,” Byrne said. “I am going to stay positive, love my life and enjoy every moment. And I thank my mom for saving my life.”





Published: 10/9/2015