Breast Cancer Diagnosis - BRCA 1 & BRCA 2 Testing

While the specific cause of breast cancer is often unknown, a certain number of women may be genetically predisposed to developing this disease. Women with the BRCA 1 or BRCA 2 gene mutation carry an inherited risk of developing breast cancer, and likely occur in women with:

• A family history of breast or ovarian cancer
• Early diagnosis of breast cancer (before age 45)
• Another family member with BRCA gene mutation

Women who carry the BRCA gene may have up to an 85 percent chance of developing breast cancer at some point in their lives. Hereditary factors usually account for only 5 to 10 percent of all breast cancer cases, but it is still important for women to undergo testing if they are considered at high risk for developing breast cancer.

The BRCA genetic test involves a simple blood test that is performed in the doctor's office through a vein in the arm. The drawn blood is sent to a lab for DNA analysis. It may take three to four weeks for results to be available. Patients with positive results will then work with their doctor to develop an appropriate prevention plan. It is important for women who receive negative test results to realize that they still face the same risk for developing breast cancer as anyone else in the general population and should be screened on a regular basis.

Genetic counseling can also be beneficial both before and after being tested for having a BRCA gene. Your level of risk for the gene may be assessed by going over your personal and family medical history. Counseling can also help you determine how to handle the results of your test.

With an increased risk of developing breast cancer in both breasts, women with the BRCA gene mutation often seek preventive care to reduce their chances of developing cancer. There are several surgical and nonsurgical treatment options available to protect even those women at the highest risk from developing cancer and maintain breast and overall health. We provide specialized care for these patients in the form of preventive and reconstructive options.

Preventive Options

Women who test positive for the BRCA 1 or BRCA 2 gene mutation should take special precautions to help reduce their risk of breast cancer. It is vitally important to increase cancer screening frequency to detect any lumps as soon as possible. Regular mammography, clinical breast examinations and sometime other forms of imaging can help identify cancer in its earliest, most treatable stage. Precautionary measures may also include chemoprevention medication to kill cancerous cells as soon as they occur or preventive surgery. Known as a prophylactic mastectomy, preventive breast cancer surgery involves the surgical removal of the healthy breast tissue. This procedure often reduces a patient's risk of developing breast cancer by as much as 90 percent.

Prophylactic mastectomy is performed using the same techniques as a treatment mastectomy procedure, and may involve removal of the breast tissue, nipple, areola and lymph nodes, depending on the risk of cancer and the patient's personal preference.

Reconstructive Options

Many women with the BRCA gene who have cancer in one breast may choose to undergo a prophylactic mastectomy on the unaffected breast at the time of treatment. This helps eliminate the need for additional surgery and further reduces the risk of recurrence. Being tested for the mutation after a breast cancer diagnosis can also help in making the decision for treatment. Taking into account each patient's individual risk of recurrence prior to initial treatment and reconstruction is an important decision that should be discussed in detail with your surgeon.

Women who undergo a single mastectomy procedure and breast reconstruction, and then develop breast cancer in the other breast will be left with fewer reconstruction options for the second mastectomy procedure. If too much skin is taken from other areas of the body during the first procedure, there may not be enough available for a second procedure. Your surgeon will help you determine the most effective treatment and prevention procedures for you, which may include implant, tissue-based or fat transfer reconstruction for one or both breasts.

It is important to discuss all preventive and reconstructive treatment options with your doctor before making any final decisions. To learn more about prophylactic mastectomy, and to determine your risk for breast cancer, please call us today to schedule an appointment.