Angelina Jolie Had BRCA Testing - Should You?
I can still remember as a young child when John Wayne had his heart surgery. Most of what I remember was the news broadcasters and their public service stories on heart disease, signs of heart attack, and interviews with cardiothoracic surgeons. Years later, the same phenomena emerged when Ronald Reagan was diagnosed with colon cancer. Public service announcements were everywhere and America's awareness of colon cancer soared.
The airwaves were saturated this past week as another household name was linked with a less familiar disease. I should clarify, however, that this movie star was diagnosed with a genetic predisposition to a disease - Angelina Jolie tested positive for the BRCA genetic mutation, which puts her at high risk for developing breast cancer. She elected to undergo a prophylactic removal of her breast tissue (mastectomy). Suddenly, because of it's new high-profile spokesperson, BRCA is a household word. Patients are now asking in droves if they should get this test. Let's remove Hollywood and the media from the equation in order to answer this question.
What is BRCA?
BRCA is a gene involved in the hormonal-directed repair process of errors that occur in the DNA (genetic code) of cells. When a mutation occurs in this gene, errors cannot be repaired as effectively, and these unrepaired cells can grow out of control, becoming cancerous tumors. There are two mutations that are most common - BRCA-1 and BRCA-2.
With a BRCA mutation, a person becomes susceptible to cancer, usually in the hormonally affected tissues of the breast and ovaries. While men can have the mutation and can be at increased risk of developing cancer, the increase is slight.
The BRCA mutation is hereditary. If a parent has the mutation, half of their children will get the mutation.
Putting the risk in perspective
Most breast and ovarian cancer in general are unrelated to a BRCA mutation, but if the mutation is present, the risk of developing cancer is extremely high. Specifically, only 3-5% of breast cancers and 10-15% of ovarian cancers are BRCA-related. If the mutation is present, however, the risk estimate is that 50-85% will develop breast cancer and 10-40% will develop ovarian cancer by age 70.
Who should be screened?
This is a complicated question with an answer that merges economics, logistics, and a relative need to know. First off, the genetic testing is under patent, and it costs around $3000. Insurance companies are reluctant to cover it without genetic counseling weighing out risk. Thing usually work out in a tiered system with a family history performed by a primary care doctor. If risk is suspected, referral occurs to a genetic counselor who dives much more in-depth to family history. From there, if the mutation is suspected and the patient is agreeable, testing takes place. The following are factors to consider in assessing risk for the BRCA mutation:
- Two or more relatives with ovarian cancer and three or more relatives with breast cancer on the same side of the family.
- Breast cancer in a relative at a young age (under 50 or before menopause)
- A relative with cancer in both breasts
- A relative with both breast and ovarian cancer
- A male relative with breast cancer
- Ashkenazi Jewish ancestry and a first degree relative (mother, sister, etc.) with breast/ovarian cancer or two second degree relatives (aunt, grandmother) with breast/ovarian cancer.
- A relative with a known BRCA mutation
If any of the above are present, genetic counseling should be offered. It's estimated that 3 out of 4 women who could benefit from genetic counseling do not receive these services. Sometimes, in these circumstances, knowledge is a personal, controversial thing. In other words, Pandora's box is best left unopened despite potential benefits in prevention.
What can be done in the face of a BRCA mutation?
Studies have shown that removal of breast tissue (mastectomy) in the face of a BRCA mutation reduces the risk of breast cancer by 85%. Removal of the ovaries in the face of a BRCA mutation reduces the risk of ovarian cancer by 85% and breast cancer by 53%. While not perfect, measures can reduce risk significantly.
BRCA mutations are dangerous, increasing risk for breast and ovarian cancer significantly. Still, screening for this mutation should occur selectively due to a number of factors. If the mutation is found, preventative measures have been shown to decrease cancer risk significantly.
If you or someone you know meets the above criterion, consider talking to your doctor about receiving genetic counseling to determine if BRCA testing is appropriate.
Hereditary Breast and Ovarian Cancer:BRCA and Your Patient. Medscape. October, 2011.