Understanding the BRCA Gene Mutations
- Angelina Jolie is the face of a potentially new way that doctors and scientists could begin revolutionizing cancer treatment for women.
- The new test was created to determine the women who are at the greatest risk of developing breast cancer and ovarian cancer because of BRCA gene mutations. This research could be the difference between preventive surgery versus a simple test for some women.
- With the help of the "Jolie gene" test, doctors could determine if the BRCA gene mutations are present in a woman's cells. Doing so would be indicative of whether a woman is more likely to develop breast or ovarian cancer.
The new test was created to determine the women who are at the greatest risk of developing breast cancer and ovarian cancer because of a specific gene mutation the BRCA gene mutations. This research could be the difference between preventive surgery, such as mastectomies or hysterectomies, versus a simple test for some women.
Read More"Once I knew that this was my reality, I decided to be proactive and to minimize the risk as much (as) I could," Jolie writes. "I made a decision to have a preventive double mastectomy. I started with the breasts, as my risk of breast cancer is higher than my risk of ovarian cancer, and the surgery is more complex."
"But I am writing about it now because I hope that other women can benefit from my experience. Cancer is still a word that strikes fear into people's hearts, producing a deep sense of powerlessness. But today it is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer, and then take action."
Related: Genetic Testing for Breast Cancer: What is This Type of Test? And What Do My Results Mean?
Understanding the BRCA Gene Mutations
"I think the most common genes people think about in the cancer genetic testing space are the BRCA genes, the B-R-C-A genes, the one that Angelina Jolie, let's say, had, which was a BRCA1 gene that placed her at risk for breast and ovarian cancer," Dr. Beth Karlan, a gynecologic oncologist at UCLA Medical Center, tells SurvivorNet during a previous interview. (Dr. Karlan is also the leader of the "Jolie test" research.)
Before we get into what exactly this new test is, it is important to understand what the BRCA1 and BRCA2 gene mutations are.
The BRCA1 (BReast CAncer 1), which is what Jolie has, or BRCA2 (BReast CAncer 2) genes help cells repair their DNA damage. Having a change, or mutation, in one of these genes increases a woman's risk of getting breast and ovarian cancer. These gene mutations are commonly passed down in families; if a parent carries a BRCA gene mutation, there is a 50-50 chance you could be carrying it as well.
"Genetic testing can empower you with such important information," Dr. Karlan says.
Genetic Testing and Ovarian Cancer
If you do have a family history of breast or ovarian cancer, Dr. Karlan strongly recommends having a discussion with a genetic counselor or physician about whether genetic testing could be right for you.
"Finding an early detection method for ovarian cancer is really like the holy grail," Dr. Karlan tells SurvivorNet. "Ovarian cancer's a bad disease, because we can't find it early. When we find ovarian cancer early, it is curable in over 90 percent of the cases." Early detection for breast cancer is as important.
Dr. Karlan cared for Jolie's mother, Marcheline Bertrand, as she fought ovarian cancer more than a decade ago.
"Having cared for Angelina Jolie's mother, I just wanted Angelina to be around to see her children grow up," she says of the study, which is far from finished, she notes to other media outlets. It could be years before women can get the "Jolie gene" test. However, the latest breakthrough offers serious hope for women with the BRCA gene mutations.
The Angelina Jolie Gene Test
With the help of the "Jolie gene" test, doctors could potentially determine if the BRCA1 or BRCA2 gene mutations are present in a woman's cells. Doing so would be indicative of whether a woman is more likely to develop breast or ovarian cancer.
Related: Is There Screening for Ovarian Cancer?
Dr. Karlan and her team have already figured out how the mutation develops, which was the first step in revolutionizing breast and ovarian cancer treatment for women. How did they do this? Well, they grew mini fallopian tubes an organ in a woman's reproductive system using cells from the blood of women who have had cancer. The researchers then observed the development of the cancer in a lab.
But there is still more work to be done. The next step, Dr. Karlan notes, is to grow fallopian tubes in a lab from women who have the BRCA gene mutations but have not yet developed cancer. This revolutionary research would allow Dr. Karlan and her team to understand how the gene mutations are caused and how they lead to cancer.
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