BRCA Testing Expands, But Misses Those Most at Risk

June 29, 2017

Most cases of breast cancer are not caused by inherited genetic factors. But in hereditary breast cancer, mutations in the breast cancer (BRCA) genes called BRCA1 and BRCA2 can mean that cells are more likely to divide, which can lead to cancer.

BRCA testing has increased dramatically as part of the effort of both patients and doctors to be proactive in cancer prevention. However, a ten-year study published in the American Journal of Cancer Prevention showed that “the role of BRCA testing has gradually shifted from being used primarily in cancer patients to being used in unaffected women in the U.S.”

Significantly, while testing increased in unaffected women (who had not been previously diagnosed with breast or ovarian cancer), the majority of the increased testing involved women aged 20-40, with almost no increase in the testing of women aged 51-65, according to Medscape.

The researchers pointed to “missed opportunities for cancer prevention,” estimating that more than 90 percent of the 220,000 BRCA “carriers” in the U.S. remain unidentified.

Inherited faults in genes such as BRCA1 and BRCA2 are rare in the population, but those faults are associated with high lifetime risks of ovarian cancer and breast cancer, according to EurekaAlert!, an online news service provided by the American Association for the Advancement of Science (AAAS).

Though testing for the two genes has been around for several decades, many women often don’t get genetic testing at all, or even the chance to speak with a genetic counselor. This is despite the fact that both the National Cancer Institute and the United States Preventative Task Force recommend that women with close relatives who have had breast and ovarian cancer talk with genetic counselors about whether or not to have the BRCA test.