When I read Angelina Jolie’s article in the New York Times, like everyone else I was struck by how straightforward, beautifully written, informative and brave it was. Most of the comments that followed the article applauded her decision to take a very private matter public. But there were also a number of disturbing comments, like the reader who wrote, “I think this is a crazy thing to do. I do not think there is a direct link between gene fault and cancer…[she should just] avoid toxins: eat organic food … drink clean water, and live in a wooden healthy home.”
It reminded me that there are still many people who refuse to acknowledge that while lifestyle choices can have an impact on health, some people are simply dealt a bad set of genetic cards and develop cancer in spite of doing everything right (and living in a healthy wooden home!).
That’s why, when I wrote The Essential Guide to Hysterectomy, I fought my editor tooth and nail to ensure that the chapter on genetic reasons why women opt for hysterectomy should be included. My editor insisted that the number of women at risk was too small to be of general interest and that the chapter should be omitted. At one point she said, “This is only going to frighten women … there can’t be that many women that really need to know about this!”
Well, I’ll tell you exactly how many women need this information: Each year 200,000 women are diagnosed with breast cancer. Roughly 22,000 are diagnosed with ovarian cancer. Of those, 5-10% are carriers of a BRCA mutation, which is responsible for their cancer. Half a million women in the United States have this gene mutation, but only 4% are aware of it. In other words, 96% of woman that are at very high risk for developing breast or ovarian cancer don’t even know it.
Genes, of course, are the parts of each cell that contain hereditary information that determines if you are destined to inherit your mom’s curly hair and your dad’s high cholesterol. Every gene has a job. The job of a normal BRCA gene is to stop cancer. A mutation is a misspelling of the gene that changes its function. If a BRCA mutation occurs, the gene can no longer do it’s job, and cancer, specifically breast and ovarian cancer, is free to grow. Like any other gene, BRCA mutations can be passed on to subsequent generations.
Certain groups of people are more likely to carry a BRCA mutation. Eastern European Jews are particularly at high risk. But I want to emphasize, this mutation is not limited to Jews: 1 in 200 people in the general population have this gene mutation. Since the majority of the population is not Jewish, neither are the majority of women who carry the BRCA gene.
Family history is the primary tool in determining the likelihood for hereditary cancer. Both your mother and father’s history is equally relevant. Sometimes this is hard information to get, especially if you come from a family that, unlike my family, doesn’t regularly broadcast their gynecologic problems at the dinner table. Sometimes all you have to go on is, “Aunt Tilly died from [whisper] female trouble,” “Grandma Rose had problems down there,” or the very specific, “Cancer … all over!”
If you have one relative with bilateral breast cancer, breast and ovarian cancer, male breast cancer or is known to have a BRCA mutation, testing is appropriate. If you are Ashkenazi Jewish ancestry, you only need one close relative with breast or ovarian cancer to be at risk.
Testing is also appropriate if you have two relatives with breast cancer (one before age 50), two relatives with ovarian cancer (any age) or one relative with breast cancer and one with ovarian cancer. If you personally have breast or ovarian cancer, testing is also sometimes appropriate.
The BRCA mutation can be detected in a blood sample. Everybody does not need to be tested for the presence of this mutation and it is not part of routine blood work.
Not too long ago I flew to New York to give a talk on menopause. Given the way we are smashed in like sardines, it’s not unusual for whoever is sitting next to me to get an eyeful of whatever I’m working on. So, on the flight over I was working on my presentation – lots of pictures about vaginal dryness, lubricant – you get the idea. The guy next to me was fascinated. At one point I thought he was going to take notes.
On the way home I was working on a presentation about BRCA. I have a fear of flying and it was pretty turbulent. Miraculously we landed and as I emerged from crash position I heard a voice say, “I’m at risk.” I turned to the woman next to me. “Excuse me for reading over your shoulder, but I’m at risk.” I said, “Oh, so you’re familiar with BRCA?” She said, “No, I never even heard of BRCA before. But now I know I am at risk and I am going to talk to my doctor about being tested.”
I know this all sounds pretty scary and many women say, “Why would I want to know?” Think of it this way: Knowledge is power. If someone is aware they are BRCA positive, this knowledge can translate into action, which will dramatically reduce or eliminate the risk of cancer. It is a gift to have that opportunity.
Read my other blog about your options if you find out you are BRCA-positive.