Many Breast Cancer Patients Don't Get Gene Test

Medically Reviewed

It’s estimated that 5 to 10 percent of all breast cancer cases are caused by an inherited gene mutation of BRCA1 and BRCA2 genes.

Women diagnosed with breast cancer associated with a BRCA gene have an increased risk of developing ovarian cancer. Yet, many of these patients don’t know they carry a BRCA gene mutation.

A study published in JAMA in February 2017 has found that only slightly more than half of the women newly diagnosed with a high risk of carrying a BRCA gene mutation are offered the opportunity to be tested. Researchers asked 773 high-risk patients, average age 62, whether they discussed genetic testing with their doctor or other health professional or had undergone counseling or testing.

Nearly 72 percent had the discussion, and 39.6 percent went on to talk with a genetic counseling expert. Slightly more than half (52.9 percent) were tested, but only 61.7 percent of those tested had a session with a genetic counselor.

The main reason high-risk women gave for not undergoing the test was that their doctor didn’t recommend it. Those patients lost the opportunity to know not only whether they were at increased risk for a future cancer, but also whether other close family members should be tested for the inherited mutation so they can manage their risk if needed.

What’s more, the presence of a mutated gene can influence cancer treatment and prevention decisions. For example, a woman may have only one cancerous breast but decide on a double mastectomy or choose to undergo a prophylactic oophorectomy to remove her ovaries and fallopian tubes before they can become cancerous.