Genetic Screening for Breast and Ovarian Cancer

By Sherry Baker @SherryNewsViews
July 06, 2017

A family or personal history of breast cancer and ovarian cancer can indicate it’s important — and potentially life-saving — to be proactive about genetic screening.

If breast or ovarian cancer seems to “run” in your family, the malignancies could be linked to a mutation of two tumor suppressor genes, dubbed BRCA1 and BRCA2, which greatly increases the risk of these cancers. And you might be carrying this inherited genetic mutation, too.

Although it may sound frightening to be in that category, knowledge truly is power for BRCA carriers when it comes to preventing and surviving cancer.


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For example, women who know they have a BRCA mutation can schedule frequent screenings to catch any malignancies at an early, more treatable stage, and some may opt for surgery to remove breast or ovarian tissue before a cancer develops. 

However, many women — including those who have already been diagnosed with a reproductive cancer — may have no clue they carry one or both of the potentially harmful BRCA genes. A recent large study by researchers at five U.S. Medical centers found doctors often failed to recommend breast cancer gene testing for patients at high risk for these cancer-related mutations.

The research team surveyed 2,529 women with breast cancer two months after surgery to find out if the patients wanted genetic testing. The majority, about 70 percent, said they did want the tests. Eight out of 10 of these women were at the highest risk for BRCA mutations due to their history — but despite this fact, less than half of these women received the genetic tests.

The reason for the lack of breast cancer gene testing was surprising. Fifty-six percent of the women were not tested simply because their doctors never recommended the BRCA test to these high risk patients, according to the research.

In addition, the study also revealed genetic counseling, which is used to help patients make decisions about genetic testing and to also explain results after the tests are completed, was rarely scheduled. In all, only 40 percent of the women at highest risk for BRCA genetic mutations had a session with a genetic counselor. This is a troubling finding because it is shows many doctors are failing to use testing and counseling to identify BRCA gene carriers, the researchers concluded.

“We found that genetic counseling and testing are not well-matched to medical need,” said study leader Allison Kurian, MD, associate professor of medicine, health research, and policy at Stanford University. “Women are very interested in genetic testing, but many fail to receive it. This is particularly worrisome because it means that doctors are missing the opportunity to prevent cancers in mutation carriers and their family members.”

According to the most recent estimates from the National Cancer Institute, 55 to 65 percent of women who inherit a BRCA1 mutation and around 45 percent of women who inherit a BRCA2 mutation will eventually develop breast cancer, and 39 percent of women who inherit a BRCA1 mutation and 11 to 17 percent of women who inherit a BRCA2 mutation will develop ovarian cancer at some point.

It’s important to note that carrying a BRCA genetic mutation does not mean you will develop a reproductive malignancy. Instead, it indicates you have a significantly increased risk for these cancers — and so it makes sense to be extra vigilant to prevent and detect cancer.

Bottom line: If you have a family history of reproductive cancers or a personal history of breast cancer, it’s important to speak up and talk to your doctor about BRCA testing and genetic counseling. It could save your life.

“Genetic testing results can affect what sort of surgery a woman may choose to treat her existing breast cancer, as well as what treatments she should pursue to reduce the risk of forming new cancers in the future,” said researcher Reshma Jagsi, a University of Michigan radiation oncologist professor. “We don’t have a crystal ball, but genetic testing can be a powerful tool for certain women. It is worrisome to see so many of those women at highest risk for mutations failing even to have a visit focused on genetic counseling.”

Visit the National Cancer Institute for more facts on BRCA risks and genetic testing.


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March 30, 2020

Reviewed By:  

Christopher Nystuen, MD, MBA