Genetic Testing And Ovarian Cancer
- 80% of women with ovarian cancer are not getting a genetic test
- One in five women have a hereditary predisposition of ovarian cancer
- If a woman is born with a BRCA1 or BRCA2 mutation, they have up to a 50 percent chance of developing ovarian cancer
- Patients will go through genetic testing after an ovarian cancer diagnosis, which can help decide which treatment is best suited for the patient
Women who are genetically predisposed to ovarian cancer were likely born with genetic mutations in their DNA which increases their risk of developing the disease. Seeing as many women may not know they have these mutations, testing is important to not only identify whether a patient is at higher risk, but also determine the best course of treatment after a diagnosis.Read More
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.