Breast Cancer Genetic Testing

A significant advance in the science of breast care was the discovery in 1994 of gene mutations that cause breast and ovarian cancer. Since then, according to the National Cancer Institute, scientists have determined that about five to 10 percent of breast and ovarian cancer cases are hereditary, due to a mutated gene known as BRACA1 or BRACA2. Gene carriers do not inherit cancer, but rather a heightened risk of cancer. Genetic testing is one of the many breast health care services available at Sentara RMH.

Genetic testing can be done by blood test or by a saliva specimen.

  • For the blood test, no special preparation is required. The sample is sent out for testing; results return in about two weeks.
  • For the saliva specimen, depending on the type of test ordered by the physician, patients will either swish a special mouthwash in their mouth and then release into a cup, or simply release saliva into a cup without using mouthwash. The specimen is sent out for testing; results return in about two weeks. Patients should not eat, drink or chew gum for one hour before the test.

Who should receive genetic testing?

You may qualify for genetic testing if breast cancer runs in your family or you have a personal history of any of the following:

  • Breast cancer before age 50
  • Breast cancer in two or more relative
  • Breast cancer in a male relative
  • Breast cancer in both breasts or twice in the same breast
  • Breast cancer and Ashkenazi or Eastern European Jewish ancestry
  • Ovarian cancer at any age

Most insurance companies cover the cost of genetic testing for those who meet their eligibility requirements.

What are the next steps after receiving a positive result for the breast cancer gene?

Those who test positive for the breast cancer gene should receive specifically tailored counseling and medical treatment based on their increased risk factors for breast and ovarian cancer. Our dedicated breast surgeon will personally consult with each woman to discuss her breast healthcare options. Those options may include:

  • Surveillance—this may include an annual MRI, mammogram and serial clinical breast exams. For ovarian cancer, surveillance methods may include transvaginal ultrasound, blood testing and clinical exams.
  • Prophylactic Surgery—Involves removing as much of the at-risk breast tissue as possible in order to reduce the chance of developing breast cancer. This may include preventive, or prophylactic, mastectomy (removal of healthy breasts) along with reconstruction and preventive salpingo-oophorectomy (removal healthy fallopian tubes and ovaries).
  • Risk avoidance—Exercising regularly and limiting alcohol consumption may decrease breast cancer risk
  • Chemoprevention—Medication, such as tamoxifen, which reduces the risk of invasive breast cancer and the use of oral contraceptives, which may reduce the risk of development of ovarian cancer.