Young Women and Breast Cancer: Genetic Testing On the Upswing

Patient Expert

Due in part to improved screening technology, many more women than ever before are learning earlier that they have breast cancer – and that includes many women under age 40. According to a recently released study, there’s been a huge uptick in younger women opting for genetic testing to help guide their treatment decisions; does this testing truly make a difference?

According to the American Cancer Society (ACS), more than 95 percent of women diagnosed with breast cancer in the U.S. each year are 40 years old or older.

Still, that leaves nearly five percent of those who are 30-something and younger to potentially be facing a breast cancer diagnosis. And that’s troublesome since the ACS reports that statistically speaking, breast cancer in women under 40 is more dangerous – more likely to be aggressive, to spread, and to kill – than in older women.

A small but meaningful population

About 12,000 young American women (and men) are diagnosed with breast cancer each year, reports the Young Survival Coalition. Many are wives and mothers—their parents are usually still alive. They’re often the center of an extended family.

How are we, as both a scientific community and society, helping these younger women deal with the specter of breast cancer? And if they’re diagnosed, how are we helping them make potentially life-or-death decisions about treatment?

The answer is genetic testing and counseling.

More young women opt for genetic testing

A recently released study on BRCA mutation testing in young women with cancer reveals that from 2006 to 2013, the number of women under 40 with breast cancer opting for genetic testing rose by nearly 40 percent. Fully 96.6 percent of study participants diagnosed in 2012—the most recent year for which data was available—decided to undergo genetic testing.

Why the increase in testing?

According to the study, two major factors are responsible for this increase. First, the Affordable Care Act has resulted in increased insurance coverage for a test that can cost thousands of dollars.

And second, what researchers are calling the “Angelina Jolie effect” has fully kicked in: the actress/activist underwent a much-publicized double mastectomy in 2013 as a result of genetic testing, which revealed her breast cancer risk was upwards of 87 percent.

Jolie’s public revelation of the genetic mutation that informed her decision to have prophylactic surgery increased women’s awareness of “the breast cancer genes,” BRCA1 and BRCA2. Women also learned that these genes can mutate and increase a woman’s risk of cancer dramatically; and that treatment is available to cut that risk.

What genetic mutation means

Data gathered by the National Cancer Institute shows that 55 to 65 percent of women with a BRCA1 mutation can expect to be diagnosed with breast cancer by age 70 (the figure is 45 percent for those with a BRCA2 mutation). This is far greater than the 12 percent lifetime risk experienced by women without the mutation; thus it’s critical that women with the mutation meet with a genetic counselor to explore their options, and to make a plan.

Such a plan might include prophylactic mastectomy, and/or removal of the ovaries; increased screening, including beginning at an earlier age, and using MRI as well as mammography; and timing of any treatments to allow for childbearing, if that’s on the table.

Do you need to be tested?

Are you a woman under age 40 who suspects your risk for breast cancer might be greater than normal? Read our post, BRCA Genetic Testing: Yes or No? This will help you determine if your fear has any basis in fact. If you meet any of the criteria, make an appointment with your family doctor to discuss your potential risk – and whether you should see a genetic counselor.

More helpful articles:

Is Breast Cancer Hereditary?

Determining Your Breast Cancer Risk

BRCA Gene: One Woman’s Decision

Top 10 Breast Cancer Risk Factors

Risks and Benefits: Understanding the Statistics That Affect You

A Guide to Breast Cancer Symptoms


Briggs, Bill. "More than the 'Angelina Jolie Effect': BRCA Testing Spikes among Breast Cancer Patients." Fred Hutch. February 11, 2016. Accessed March 19, 2016.

Rosenberg, Shoshana. "BRCA1 and BRCA2 Mutation Testing in Young Women With Breast Cancer." JAMA Network. February 11, 2016. Accessed March 19, 2016.

Breast cancer survivor and award-winning author PJ Hamel, a long-time contributor to the HealthCentral community, counsels women with breast cancer through the volunteer program at her local hospital. She founded and manages a large and active online survivor support network.