What is BRCA gene mutation?

BRCA1 and BRCA2 are "tumor suppressor genes," meaning that, when normal, they make proteins that keep cells from growing abnormally, according to

BRCA1 and BRCA2 are "tumor suppressor genes," meaning that, when normal, they make proteins that keep cells from growing abnormally, according to

"The way I explain it to patients is, they act like a stop sign. If the sign isn't working or is gone, the tumor cells go through the 'intersection' and grow into tumors," said Jackie Roberts, a family nurse practitioner who is certified in oncology at Altru Cancer Center.

Those with the BRCA gene mutation have a greatly increased chance of developing breast or ovarian cancer.

Genetic testing, provided through the Sanny and Jerry Ryan Center for Prevention and Genetics, a part of Altru Health System in Grand Forks, determines whether a person carries the BRCA mutation or not.

Only about 5 to 10 percent of breast cancer cases in women are attributed to BRCA1 and BRCA2 mutations, Roberts said.


Mutations can be inherited from either parent and can be passed on to female and male children. Each child of a genetic carrier has a 50-50 chance of inheriting the mutated gene.

The risk of BRCA-related breast cancers for men with the mutation is higher than for other men, but still low, Roberts said. However, BRCA mutations can increase the risk of other cancers, such as pancreatic and prostate.

Insurance coverage for genetic testing depends on a patient's insurance plan and medical history, she said. "If (patients) meet the red-flag criteria, a lot of insurance companies cover it.

"We're seeing more and more insurance companies being proactive and covering the cost-with a patient co-pay."

The cost of the test is much cheaper than cancer treatment, she noted.

"Some people are fearful that they'll be discriminated against if they change jobs," she said. They would do anything, including paying out-of-pocket for the test, to avoid running it through their insurance.

Some worry that if the Affordable Care Act is rescinded, their employer will be able to discriminate against them, she said.

This fear is unfounded because another federal law, the Genetic Information Nondiscrimination Act of 2008, made such discrimination illegal.


The comprehensive test for the BRCA gene mutation is about $3,600, she said. If the mother has tested positive, the test for her children is about $370 because only a single site on the gene is examined.

The test involves taking a swab from the inside the cheek or a blood or saliva sample. Results are returned about a month later.

"We want to be able to act on the information we receive," said Roberts.

That may mean recommending monitoring the breast through mammogram and magnetic resonance imaging (MRI), monitoring the ovaries with ultrasound or surgical management.

For women with the BRCA mutation, removal of the ovaries reduces the risk of ovarian cancer by 90 to 94 percent, she said.

"Every association (involved in cancer cancer) recommends that patient receive education and counselling before making a decision (about next steps). It's not something to be taken lightly," she said. "It affects the whole family."

Risk factors

Those who are most at risk for having the BRCA1 or BRCA2 gene mutation:


• were diagnosed with breast cancer before menopause (typically before 50 years of age).

• have family members (mother, daughter, sibling) who had an early diagnosis of breast cancer.

• have had personal or close family members with a diagnosis of ovarian cancer at any age

• are of Ashkenazi Jewish descent.

• have relatives who have been diagnosed with breast and pancreatic cancer and are in the same family structure (for example, mother's side or father's side).

• have "triple negative breast cancer," or three pathologic features of the tumor.

Pamela Knudson is a features and arts/entertainment writer for the Grand Forks Herald.

She has worked for the Herald since 2011 and has covered a wide variety of topics, including the latest performances in the region and health topics.

Pamela can be reached at or (701) 780-1107.
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