Genetic testing urged for women with a family history of breast cancer

by Adnan Alam
  • Slug: BC-CNS-BCRA Genes,400
  • Photo, video story available (thumbnail, caption below)

By Ashleigh Stewart
Cronkite News

PHOENIX – Every two minutes, a woman in the U.S. is diagnosed with breast cancer, according to the National Breast Cancer Foundation, but thanks in large part to early detection, breast cancer death rates have dropped 40% since 1989.

Genetic testing has emerged as an invaluable tool in the early detection of breast cancer, which is hereditary in 10% to 15% of cases. A genetic marker was identified in the 1990s: mutations in BRCA genes 1 and 2, which produce tumor suppressor proteins.

According to the National Breast Cancer Foundation, an estimated 41,760 women died of breast cancer in the U.S. in 2019. The final number has not yet been released.

“Many generations and many with the same type of cancer, that should set off an alarm bell in that family,” said Dr. Donald Northfelt, oncologist at the Mayo Clinic Breast Clinic in Phoenix.

People inherit BRCA gene mutations from either the mother or father, and those changes are implicated in breast and ovarian cancers. Any cell in the body can be tested for that mutation. It’s typically done by taking a blood or saliva sample and sending it to a laboratory for panel testing.

Patients at the Mayo Clinic are referred to a genetics counselor as the first step in obtaining BRCA testing. Northfelt wants patients to be fully informed of the circumstances that may arise from the test result.

HonorHealth, a health care system based in Phoenix, takes a similar approach.

“It’s going to have implications for your family members because we might still want to test other people that could be at risk for genetic mutation even if you tested negative,” said Madison Lafleur, a genetics counselor at HonorHealth.

She said HonorHealth has patient assistance programs and can help cover the cost of the appointment. However, the biggest barrier to accessibility is the lack of genetic counselors and the waiting list that creates.

“How will this testing affect family members, and what can we do to hopefully put them at ease?” Lafleur asked. “If they get a positive result, how can we work with them to get them through the initial shock and make sure they are getting the correct screening that they need?”

Genes aren’t the only risk factor for cancer, the National Cancer Institute said. Changes in lifestyle – particularly quitting smoking – and eating habits also help to prevent cancer.

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A blood test uses DNA analysis to identify potential cancer-causing gene mutations, which women can inherit from either parent. (Photo courtesy of Mayo Clinic)