Genetic Testing For Ovarian Cancer: Why Is It Important?

“These genes don’t mean [women] will definitely get cancer, but to give an example, in the general population one in every seventy women will get an ovarian cancer diagnosis in their lifetime, [and] if you’re born with a BRCA1 or BRCA2 gene mutation those are the most frequently diagnosed gene mutations and your risk increases up to 50% so that would be a one out of two,” Dr. Chapman says.

Once receiving an ovarian cancer diagnosis, patients will be referred to a doctor for genetic testing to see if they have hereditary dispositions. By going through testing, doctors can determine different treatment strategies that will best suit a patient’s needs.

“This information now is crucially important to understanding what treatments [will] most benefit [patients],” Dr. Chapman says.

What Are BRCA1 And BRCA2?

BRCA1 and BRCA2 are proteins that work as tumor suppressors. They help repair damaged DNA, and are important for ensuring the stability of each cell's genetic material. If either of these genes is altered, that mutation can mean that its protein product does not function properly, or that damaged DNA may not be repaired correctly.

BRCA1 and BRCA2 are traditionally associated with cancers specific to women, such as breast and ovarian, and are commonly passed down among family members. In fact, if one of your blood relatives is found to carry a BRCA gene mutation, there's a 50-50 chance you could be carrying it, too. However, BRCA mutations aren't found on the X or Y sex chromosome, so you're just as likely to inherit the risks of cancers associated with BRCA from your father as you are from your mother. Plus, in the U.S., it is reported that 90 percent of people who carry a BRCA gene mutation aren't aware that they’re carrying it until someone in their family gets cancer.

Identifying the BRCA mutation isn't just about letting the patient's family members know to be vigilant with screening, but there are new therapies available for ovarian cancer patients with BRCA mutations, as well as encouraging research being done to improve health outcomes. Even women with no familial history of ovarian cancer could have the BRCA1 or BRCA2 mutation genetically present. Whether that's the result of their having small families (or a variety of other reasons), a lack of ovarian cancer diagnosis in the family is not a rational reason to forego being tested. Certain populations, such as Ashkenazi Jews and those with Mediterranean roots, are particularly susceptible to these mutations. Between the potential benefit to the family members and to the patient herself, it is important that patients understand the value in the genetic testing.

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