Genetics testing helps women at high risk

Emma Carew

Testing for the BRCA1 and BRCA2 gene mutation can help women identify their risk for developing breast and ovarian cancers, Mary Ahrens , genetic counselor at Fairview University Medical Center, said.

The gene mutations, which fall on chromosomes 17 and 13 respectively, were identified in the mid-1990s, Ahrens said.

A positive mutation in either gene elevates a woman’s lifetime risk of developing cancer to between 60 and 80 percent, she said.

Breast cancer survivor Jackie Malling, the executive director of the Minnesota Lions Eye Bank, said she was tested for the BRCA mutations after she was diagnosed.

During genetic counseling, she said doctors found a case of breast cancer that was diagnosed in one of her father’s only female relatives.

Although Malling’s tests came back negative for both mutations, she said she would have acted on the information had that not been the case.

“You really can’t say you’re cured,” Malling said. “If I had tested positive for BRCA1 or 2, I would have had a bilateral mastectomy.”

Malling was diagnosed with an invasive cancer in 1999 and underwent a lumpectomy surgery, chemotherapy and radiation.

Only about 5 to 10 percent of breast cancers are hereditary, Ahrens said, but identifying a genetic mutation can help women start early screening if they do have a higher risk.

If a woman tests positive for the genetic mutations, she can meet with the genetic counselor again to discuss her options.

They might include things like annual mammograms and breast MRIs, getting a breast exam, doing self-exams and prophylactic surgeries, Ahrens said.

“Our goal is to identify people at high risk and put them on a screening protocol,” she said, “so that we can catch the cancers early or so that they never get it.”