Why Even Breast Cancer Survivors Should Get Tested for BRCA

A genetic counselor can help women understand their risk of developing breast or ovarian cancer. 

  • New guidelines from the U.S. Preventive Services Task Force (USPSTF) call for more women to be tested for mutations on the BRCA gene.
  • Mutations in the BRCA1 or BRCA2 gene can increase your risk of breast cancer by about 45 to 65 percent and your risk of ovarian, fallopian tube, or peritoneal cancer by up to 39 percent.
  • Experts point out new mutations have been discovered that could help identify more women at risk of developing these cancers.

Aside from skin cancer, breast cancer is the most common form of cancer among women in the United States, making it one of the country’s largest public health issues.

Each year, nearly 245,000 women in the United States are diagnosed with breast cancer, and about 41,000 women die from it. 

This week, the USPSTF released a new set of breast cancer screening recommendations to better predict and manage people’s risk of certain inherited cancers.

The guidelines, which were published in JAMA, suggest that many women, especially those who have already been diagnosed with cancer, should undergo genetic testing to look for BRCA1 and BRCA2 gene mutations, which are most commonly seen in inherited breast cancers.

“For individuals with a past BRCA-related cancer who are now cancer-free, genetic testing can still be a very important tool,” Courtney Rowe-Teeter, a genetic counselor at Stanford Health Care, told Healthline. “If they have a BRCA mutation, then they are at elevated risk for a second BRCA-related cancer in the future and can consider increased screening protocols and/or preventative measures, such as increased breast surveillance and risk-reducing ovarian surgery.”

BRCA mutations increase your chances of getting cancer

The BRCA genes are considered tumor suppressor genes. When they’re functioning properly, they help prevent tumors from forming. 

We each have two of them: one from our mother and one from our father. When there’s a harmful change in either of these genes, our risk for cancer increases exponentially. 

“Someone who inherits a harmful change (mutation or pathogenic variant) in a copy of a BRCA gene are at elevated risk for several types of cancer, with the highest risks being for breast cancer and ovarian cancer,” Rowe-Teeter said. 

While a BRCA mutation is rare, having one would increase your risk of breast cancer by about 45 to 65 percent and your risk of ovarian, fallopian tube, or peritoneal cancer by up to 39 percent.

About 5 to 10 percent of all breast cancers are thought to be caused by BRCA1 and BRCA2 mutations. 

Who should be tested

Previously, the USPSTF recommended that only women who had a family history of breast, ovarian, fallopian tube, or peritoneal cancer be tested for harmful BRCA mutations.

Now, the task force is also recommending additional groups of women get tested, including those who have either personally been diagnosed with either breast, ovarian, fallopian tube, or peritoneal cancer or have an ancestry associated with these cancers — like people of Ashkenazi Jewish descent.

But women who have no personal or family risk of these cancers don’t need to be assessed, the task force advised.

“Women with a history of breast cancer may have had genetic testing years ago that did not show an identifiable BRCA mutation. Over the past 10 years, additional mutations have since been identified, and many women who retested have learned that they do carry a mutation,” Dr. Brigid Killelea, the chief of breast surgery at Yale Medicine, told Healthline. 

In addition, many women who have a BRCA mutation are more likely to develop a second BRCA-related cancer in the future, Killelea added. 

Those who test positive for a mutation should receive genetic counseling and consider interventions to lower their risk as much as possible — such as bilateral mastectomy, or the surgical removal of both breasts.

“In addition, there may be other ways to reduce risk, including weight management, eating a healthy diet, exercise, and for some, taking a risk reducing medication called tamoxifen,” Killelea noted.

Here are the steps to take

If you have a personal or family history of cancer, talk to your primary care provider or OB-GYN first. They’ll help you understand your risk of having a BRCA mutation along with whether or not you may benefit from genetic testing. 

From there, a genetic counselor can recommend a test to assess your personal cancer risk. They’ll also help you interpret the results and discuss any available preventive treatment options. 

By mapping out your risk of hereditary cancer early, the sooner you can detect and, ideally, prevent various types of cancer from occurring. 

“Women should not be afraid to ask about genetic testing or to have it if recommended,” Killelea said. “Knowledge is power.”

The bottom line

This week, the USPSTF released a new set of breast cancer screening recommendations to better predict and manage people’s risk of certain cancers.

The new guidelines suggest that women who have already had cancer should undergo genetic testing to determine if they have any BRCA gene mutations. By understanding their risk of inherited cancers, more women can better detect and prevent cancer from occurring. 

 

 

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