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Expanded Testing Recommended for Breast, Ovarian and Other BRCA-Related Cancers

Experts say older women and survivors can still benefit from gene-mutation screening

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En español | More women, including breast and ovarian cancer survivors and those with specific ancestry, may benefit from genetic testing to determine their cancer risk, says an expert panel that develops health screening guidelines for doctors.

The panel, the U.S. Preventive Services Task Force (USPSTF), has long advised primary care doctors about when to refer women to a genetic counselor to discuss the possibility of testing for mutations in the genes BRCA1 and BRCA2, which are linked to a significantly increased risk of breast and ovarian cancer by age 70.

In an update published in the Journal of the American Medical Association, the task force expanded on its existing recommendation — that physicians should evaluate a woman's risk if she has a family history of BRCA-related cancer — to include two more groups:

  • Women with a personal history of BRCA-related cancer, meaning those who are now considered cancer-free but were previously treated for breast, ovarian, fallopian tube or peritoneal cancer.
  • Women whose ancestry puts them at increased risk. This applies primarily to people with Ashkenazi Jewish ancestry, 1 in 40 of whom have a BRCA mutation, compared with about 1 in 500 people in the general U.S. population, according to the Centers for Disease Control and Prevention (CDC).
A dividing breast cancer cell showing its uneven surface and cytoplasmic projections

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Know the Numbers

About 50 percent of women with BRCA1 or BRCA2 will get breast cancer by age 70

• 7 percent of women in the general U.S. population will get breast cancer by 70

• About 30 percent of women with BRCA1 or BRCA2 will get ovarian cancer by age 70

• Fewer than 1 percent of women in the general U.S. population will get ovarian cancer by 70

­— Source: CDC

Experts say the inclusion of cancer survivors has particular significance for older adults who were successfully treated for BRCA-related cancer before genetic testing became available in the mid-1990s.

"One of the things that I see very commonly is that people who had cancer a long time ago feel like this information is not particularly helpful,” says oncologist Susan Domchek, executive director of the Basser Center for BRCA at Penn Medicine, “but it still matters."

Testing can help cancer survivors because BRCA mutations put people at risk of others cancers, including those that tend to develop later in life. A woman now in her 70s who was successfully treated for breast cancer in her 40s, Domchek says, may still face an elevated risk of ovarian cancer.

For those women, as well as those whose family history or ancestry puts them at increased risk, genetic counseling and testing can help them determine whether to pursue measures like more frequent cancer screenings, risk-reducing medications, or preventive surgery, such as a mastectomy or the removal of ovaries.

Testing can also help families. Because BRCA mutations are inherited (someone with a BRCA mutation has a 1 in 2 chance of passing the mutation to each of his or her children), a positive test for one family member can alert relatives that they may be at risk.

Genetic counseling, experts say, is an important first step that allows people to learn more about the benefits and downsides of testing and what their test results might be. Genetic counselors are also trained to help people understand their results in conjunction with factors like family history.

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"The test results for BRCA can be complex, and help interpreting those with a genetic counselor is very important,” says internist Douglas Owens, chair of the USPSTF. And, he says, screening is not appropriate for everyone. BRCA mutations account for only 5 to 10 percent of breast cancers and 15 percent of ovarian cancers. The USPSTF does not recommend screening or genetic testing for those who don't have a personal or family history of BRCA-related cancers or other risk factors like ancestry.

On the other hand, certain groups excluded from the existing guidelines also benefit from BRCA testing, Domchek says. This includes newly diagnosed and late-stage cancer patients (learning their BRCA status can affect treatment choices), as well as men who have a family history of breast or ovarian cancer. (Men can also have BRCA mutations, which put them at increased risk of breast and prostate cancer, and they can pass them on to their children.)

The CDC recommends that people concerned about their BRCA risk start by gathering their family history and talking to their health care provider. Private insurance companies will often cover BRCA testing when it is recommended by a physician.