Here are answers to some commonly asked questions about testing for BRCA1 and BRCA2.
What is breast cancer gene testing?
It is estimated that 5 percent to 10 percent of all breast cancers are inherited. Most inherited cases of breast cancer are associated with two genes called BRCA1 (BReast CAncer gene 1) and BRCA2 (breast cancer gene 2). Genetic testing is a DNA blood (or saliva) test, which looks for changes (mutations) in the BRCA1 and BRCA2 genes that cause an increased risk for developing breast and ovarian cancer.
Should every woman have breast cancer gene testing?
No, at this time, breast cancer gene testing is offered to families that meet certain criteria. The prevalence of BRCA1 and BRCA2 gene mutations in the general population is about one in 500 people. Therefore, it is not common enough to screen the entire general population, and it would be cost prohibitive. Also, genetic testing isn’t perfect. There can sometimes be ambiguous or uncertain results. Certain characteristics of a family medical history may qualify a person for genetic testing.
What are the red flags you look for in a family history, which might suggest a hereditary link?
Here are some of the warning signs that indicate a need for BRCA genetic testing.
- Young onset breast cancer (premenopausal)
- Multiple relatives on the same side of the family with breast cancer at any age
- Ovarian cancer at any age is a major predictor of genetic risk
- Male breast cancer
- Ashkenazi Jewish heritage
What steps should I take to better understand my risk for breast cancer?
Obtaining a detailed medical family history is very important, as risk assessment is highly dependent on family history. Here is the type of information you should collect:
- Who in the family has had cancer (blood relatives)
- Type of cancer in the family (where the cancer started)
- Approximate age at which the cancer was first diagnosed
Talk with your doctor about your family history; a referral to a genetic counselor may be appropriate.
What is a genetic counselor?
Genetic counselors are advanced practice providers, specialty trained in interpreting family history and genetic testing. Through the process of genetic counseling, they help people gain a basic understanding of genetics and disease risk. In addition, they facilitate the genetic testing process and provide support for decision making.
Is genetic testing covered by most insurance companies?
Yes, it is usually covered by insurance when medically indicated. There has to be a reasonable likelihood that the gene is in the family, and we have to determine how the genetic testing will impact medical management. The genetic counselor will help to facilitate any required insurance pre-authorizations after the genetic counseling appointment.
If someone has a breast cancer gene mutation, what can be done about it?
The goal of genetic counseling and testing is for the prevention and early detection of cancer. Women who are found to have a breast cancer gene mutation meet with our team of specialists who have experience in managing patients at an increase risk for cancer. They will discuss medical management decisions which may include: additional surveillance (such as breast MRI), medications that can reduce the risk of cancer and surgical options.
This is just one example of how our specialists at are putting personalized medicine into practice. Personalized medicine is about understanding your risk factors for a disease, in this case cancer, and making personal decisions based on your own philosophies, your priorities in life, your family, and your lifestyle — to take control of your health, make informed decisions, and practice disease prevention and early detection.