High risk women turn to genetic testing for breast cancer

Teresa Ristow
Yampa Valley Medical Center
Courtesy Photo

— When actress Angelina Jolie chose to have a double mastectomy in 2013, she didn’t have any signs of breast cancer but was instead acting on the results of a genetic test.

The test Jolie took could detect whether she had some of the most common gene mutations associated with breast, ovarian and a few other types of cancers — mutations of the BRCA1 and BRCA2 genes. The test revealed that Jolie did have a BRCA1 mutation, leading to her decision to have a double mastectomy before showing any signs of cancer.

“When we have the results of genetic testing, it can really help us guide a person in their care,” said Frannie Johnson, a nurse navigator in the Gloria Gossard Breast Health Center at Yampa Valley Medical Center in Steamboat Springs.

While most cancers occur in people who don’t have a strong correlating family history of a type of cancer, in some families, similar or the same cancers are passed through generations because of altered genes.

About 5 to 10 percent of breast cancers in the United States are linked to an inherited gene mutation.

Nationwide, genetic testing for breast cancers is recommended if a woman meets certain red flag risk factors for hereditary cancer, including a history of a combination of cancers on the same side of the family, a history of breast, colon or endometrial cancer in a family member 50 or younger or a history of rare cancers, including male breast cancer and ovarian cancer.

Because of the risk factors, most women who undergo genetic testing are already well aware of their high risk for developing breast cancer.

“It’s a population where it’s already on their radar. It’s already a fear,” said Johnson, who helps guide women through the process of working with doctors to receive diagnostic care, genetic testing, and in some cases, cancer care.

YVMC contracts with Rocky Mountain Cancer Centers to send a genetic counselor to the hospital four times annually to provide genetic testing for various cancers.

In June, YVMC began administering the same genetic tests throughout the year, providing results for patients more quickly than before.

“We found that women were really interested in doing the testing more immediately,” Johnson said.

If a woman receives a positive result for a gene mutation related to breast cancer, they are able to consult with their primary care doctor about options, including having a preventative mastectomy, like Jolie and many other women nationwide have chosen to do.

Other options include preventative chemotherapy or preventative removal of the uterus, ovaries or colon.

Whether a woman receives a positive, negative or uncertain result, doctors recommend the woman continues increased screening because of the existing high risk factors.

“A negative result is great, but you should still be increasing your screenings and following your family history,” Johnson said.

To learn more about whether genetic testing might be appropriate for certain people, visit or call the breast health center at 970-871-2399.

To reach Teresa Ristow, call 970-871-4206, email or follow her on Twitter @TeresaRistow

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