IT'S IN THE GENES: Understanding the importance of genetic testing at Jupiter Medical Center

Elisabeth McKeen, MD
Board Certified, Oncology
Medical Director, Genetics Program at Jupiter Medical Center

The field of genetics is becoming an increasingly important part of healthcare. In oncology, knowing one’s family history and genetic make-up saves lives.

Predictive gene testing, used to look for gene mutations that might put a person at risk of getting a disease, is usually done in those families with a disease that may be inherited. Predictive testing is used to track changes or mutations in the breast cancer genes – called BRCA1 and BRCA2 – in a woman whose mother, sister or even father carried the breast cancer gene.

These mutations significantly increase a woman’s risk of breast cancer and ovarian cancer when compared with the cancer risk of a woman without a BRCA gene mutation. Men with inherited BRCA gene mutations also face an increased risk of breast cancer. BRCA mutations can also increase the risk of other types of cancer in both women and men.

Know Your Risk

You may be at increased risk of having a BRCA1 or BRCA2 gene mutation, and be a candidate for BRCA gene testing, if you have any of the following:

  • A personal history of breast cancer diagnosed at a young age (premenopausal), breast cancer affecting both breasts (bilateral breast cancer), or both breast and ovarian cancers
  • A personal history of ovarian cancer and a close relative with ovarian cancer, premenopausal breast cancer, or both
  • A history of breast cancer at a young age in two or more close relatives, such as your parents, siblings, or children
  • A male relative with breast cancer
  • A family member who has both breast and ovarian cancers
  • A family member with bilateral breast cancer
  • Two or more relatives with ovarian cancer
  • A relative with a known BRCA1 or BRCA2 mutation
  • Ashkenazi (Eastern European) Jewish ancestry and a personal history of ovarian cancer
  • Ashkenazi Jewish ancestry, with a close relative who has breast or ovarian cancer

Who should consider BRCA gene testing?

Ideally, in a family that might carry a BRCA mutation, the youngest family member who has breast cancer will have the BRCA gene test first. Genetic counselors can help you identify who this person is, based on family history. If this individual agrees to genetic testing and doesn't carry the BRCA gene mutation, then other family members will not benefit from taking the test.

What is the BRCA gene test?

The BRCA gene test is a blood test that uses DNA analysis to identify harmful changes (mutations) in either one of the two breast cancer susceptibility genes — BRCA1 and BRCA2. Women who have inherited mutations in these genes face a much higher risk of developing breast cancer and ovarian cancer compared with the general population. The BRCA gene test is offered only to people who are likely to have an inherited mutation, based on personal or family history, or who have specific types of breast cancer. The BRCA gene test is not routinely performed on women with an average risk of breast and ovarian cancers.

Having a BRCA gene mutation is uncommon. Inherited BRCA gene mutations are responsible for about five percent of breast cancers and about 10 to 15 percent of ovarian cancers (the gene can be inherited from either the mother’s or father’s side).

What happens after the BRCA gene test?

After completing genetic testing, you will learn if you carry an inherited BRCA gene mutation and receive an assessment of your personal risk for breast cancer and ovarian cancer. It is important that you speak with a qualified physician or genetic counselor to explain the results of the tests.

Genetic counseling is a very important part of the genetic testing process. If the cancer risk is found to be high, the genetic counselor may talk about the best ways to manage it. These may include lifestyle changes, early detection, watching for signs and symptoms of cancer, medicines to reduce cancer risk, or even preventive surgery. The counselor will explore ways to cope, address specific fears and concerns, and discuss the test results and what they mean with you and your family members.

Knowledge is power. Know your risk.

For more information on Jupiter Medical Center’s Genetics Program, call the Margaret W. Niedland Breast Center at (561) 263-2000 or visit The Margaret W. Niedland Breast Center is nationally accredited by the American College of Radiology (ACR) and has been designated as an ACR Breast Imaging Center of Excellence.