Regional Cancer Center
BRCA 1 and 2: Understanding and Reducing Cancer Risk
When actress Angelina Jolie disclosed her genetic testing, the presence of the BRCA 1 gene mutation and her decision to undergo preventive double mastectomy, she sparked a national discussion and, for many women, additional questions.
It is important to understand that there are two separate genes the BRCA 1 and BRCA 2, explains James Orr, M.D., gynecologic oncologist. Both BRCA 1 and 2 are tumor suppressor genes, so when they are working correctly they suppress tumors/cancers from occurring. When the genes are defective, the suppressor is gone and the risk of cancer increases.
Defects in either the BRCA 1 or 2 gene dramatically increase the risk for breast and ovarian cancer specifically increasing from 1.3 percent to as high as 60 percent for ovarian cancer and raising the risk from 12 percent to as high as 80 percent for breast cancer.
Knowing whether you carry the BRCA 1 or 2 gene mutation is crucial to determining next steps in care and prevention, Dr. Orr says. State-of-the-art genetic testing, which is only available locally at the Regional Cancer Center, is appropriate for high-risk patients. Examples of factors that trigger testing include:
- Known mutation in the family
- Family history of breast or ovarian cancer
- Personal history of early onset breast cancer diagnosed at 45 years of age or younger
- First or second degree male relative diagnosed with breast cancer
- Personal history of breast cancer diagnosed at 50 years of age or younger plus family history
- Personal history of breast or pancreatic cancer at any age plus family history
- Personal history of ovarian cancer
- Being of the Ashkenazi Jewish ancestry
Before proceeding with genetic testing, Mary Ann Orlang, RN, clinical nurse specialist and genetic counselor, advises patients and helps them understand the implications of testing. I ask the patient about his or her family history and draw a family pedigree, Mary Ann explains.
I look at prevalence of certain types of related cancers in the family. I look at risk factors that are present and determine whether genetic testing is recommended. Before testing, I make sure that the patient is well-informed about the test, its limitations, risks and benefits.
Surgical options for women who are BRCA 1 or 2 positive include prophylactic bilateral mastectomy or preventive double mastectomy. The bilateral mastectomy decreases the risk of breast cancer to 5 percent, Dr. Orr says. If a woman wants to keep her breasts, we can do a prophylactic oophorectomy or ovary removal. This reduces breast cancer risk to 50 percent and decreases ovarian cancer risk to 5 percent.
Dr. Orr and Mary Ann advise all patients to be cognizant of family history on both mother and father s side of the family. Deciding whether to proceed with genetic testing is a personal decision, as is the decision to undergo preventive surgery. It is the woman s decision, Dr. Orr says. But, she should discuss everything carefully and candidly with physicians and medical professionals who understand the nuances of the BRCA genes.
Breast Genome Study
James Orr, M.D.
Florida Gynecologic Oncology
8931 Colonial Center Drive
Fort Myers, FL 33905