by Christine Farrell
When Angelina Jolie Pitt made it public that she carried the cancer gene and had opted to have a mastectomy, the world took notice. She recently had a total hysterectomy due to her genetically increased risk of ovarian cancer. The gene that she carries is called the BRCA gene and greatly increases one’s risk of breast and/or ovarian cancer. The problem doesn’t lie in knowing that you do have it but in not knowing.
Not every person with a family history of cancer needs to be tested. Most cancers occur by chance and are known as sporadic cancers. This means that the person has no family history of cancer and yet, developed the disease. Familial cancer is someone who has one or more relatives with cancer, but there is no specific pattern of inheritance.
The cancer that requires testing is the hereditary cancer type. This means that an altered gene is passed from parent to child and they, therefore, have a greater risk of this cancer as well as the risk of developing it at a younger age.
How do you know whether you should be tested? It is important to discuss your history with a health care professional who has been trained in the testing for the BRCA gene(s), but the criteria are also listed here below:
A personal or family history of:
- breast cancer diagnosed under the age of 50
- ovarian cancer at any age
- male breast cancer
- two primary breast cancers
- triple negative breast cancer (negative ER, PR, HER2)
- pancreatic cancer with a breast or ovarian cancer
- Ashkenazi Jewish ancestry with a Hereditary Breast, Ovarian or Pancreatic cancer at any age
- two or more relatives with breast cancer with one under the age of 50
- three or more relatives with breast cancer at any age
- a previously defined BRCA mutation in your family
What is important here is the knowledge gained from the test and how it affects your health care management and the management of all of your children, siblings and other family members. Knowing you are positive for the gene means you have choices, and insurance will now cover them (depending on your coverage).
In the general population, the chances of breast cancer are approximately 8%, but if you are BRCA positive, it is up to 87 percent. If positive, the risk of ovarian cancer goes from a general population risk of less than one percent to up to 44 percent.
The testing is done in the office of a health care professional who has been trained in the testing and management of BRCA. It’s a quick test and is called My Risk, which gives us more information than ever before with just one test.
If the test is positive, what do you do? Changing your surveillance is the first step. Mammograms plus breast MRI begin at 25 and are yearly. Pelvic exams are done twice a year and transvaginal ultrasound and CA-125 testing are done twice a year to detect ovarian cancer.
There are certain medications that can decrease the risk and surgery is also an option. The most important part of knowing is that you now have options to actually prevent the cancer that could otherwise end your life. You can also notify the ones you love to protect them as well and help them get the proper management.
Most insurance companies will cover the testing if the patient meets criteria, but financial assistance is also available for those whose insurance doesn’t pay or who are uninsured.
There are Federal and California laws in place to protect against discrimination based on genetic information, and the results of the test go only to the patient and their health care provider.
Knowledge truly is power; in this case, the power to save your life or the lives of the ones you love.
Additional resources can be found at www.BRACnow.com or by calling Myriad Genetic Laboratories at 800-4-MYRIAD (800-469-7423)
Christine Farrell MSN, FNP-C is a specialist in the area of hormonal imbalances in men and women and has been in practice in the area for over 17 years. She is an Associate Clinical Professor at University of California, Los Angeles and is also an alumnus of the University. Farrell belongs to the North American Menopause Society, The International Menopause Society, and the International Hormone Society. Her practice, Bio-Identical Wellness in Westlake Village, incorporates the use of bio-identical hormones, nutrition, supplements and lifestyle changes to promote wellness of both the physical and emotional aspects of health.