There was absolutely no obvious reason that I should have breast cancer. I was a breast cancer doctor, and so I somehow thought I should be immune to getting breast cancer. Truly, other than being a woman, I had no risk factors for breast cancer.
None of the commonly known risk factors for breast cancer applied to me. I was lean, exercised regularly, had three pregnancies, and never took any hormones. I don’t even drink alcohol. No one in my family had breast cancer at a young age. My mom was fine, and none of her relatives ever had breast cancer. And she comes from a large family! My father’s mom had breast cancer, but she was older when she was diagnosed and died when she was eighty-two. None of her four living sisters had breast cancer. So I never really worried about getting the disease I was an expert in.
All of this changed when my phone vibrated in the middle of a seemingly normal Friday morning. I was pouring myself a cup of coffee and talking with a colleague about a new research project testing a promising new drug. I almost didn’t answer, but then I recognized the number of the radiology department. As I answered, I mentally ran through the list of my recent patients and pondered whom I’d have to subsequently call with bad news. The voice on the other end of the line sounded eerily cheerful and upbeat, so it took me a moment to realize she was not talking about one of my patients but my own recent mammogram. They had found five little “irregularities.”
After weeks of further tests and biopsies, I was diagnosed with an early form of breast cancer. I was lucky, but my mind wouldn’t let go of these burning questions: How did I end up with breast cancer? I’ve heard this question countless times from patients in my breast cancer clinic in California, and now it was my turn to ask.
I knew from my years in practice that breast cancer can occur at any age and in women without risk factors. All it really takes is one cell to transform, to turn from a normal cell into a cancer. In the majority of women diagnosed with breast cancer, the reason for this transformation is a “isolated or sporadic” event.
The main goal of any treatment is therefore to make sure the cancer is detected at an early stage and removed before it spreads. The treatment usually includes a lumpectomy (removal of the tumor cells) and radiation to the breast; a full mastectomy is rarely needed.
My type of cancer, though, was different. When I held in my hands my own mammogram showing several areas of abnormalities, at the age of forty-eight with three elementary school children, I had the sinking feeling that there was something else wrong.
Genetic testing for BRCA mutations confirmed this suspicion.
Everybody should have two copies of both the BRCA gene. These genes protect against cancer. In me, however, one of the BRCA2 genes is faulty, and it can no longer protect my cells from developing cancer. That meant what I had was actually another form of cancer. Rather than a sporadic event that caused an isolated group of my breast cells to mutate, all my breast cells were at risk to turn into cancer from the time I was born. In fact, over my lifetime, the risk I would develop breast cancer was over 70 percent.
Unbeknownst to me until then, I had inherited a BRCA2 breast cancer mutation, one of the two BRCA genes that make a carrier of this gene much more likely to develop breast and ovarian cancer than other women often with a more aggressive types in younger years. And while tumors had only been found in one breast, the likelihood of having cancer in the other breast over the next few years was close to 40 percent.
The public mastectomies of high-profile celebrities, such as Angelina Jolie and others have recently brought attention to how widespread this mutation is. Currently, among Americans, we think the risk of carrying such a mutation is 1 in 200 to 1 in 400, but as high as in 1 in 40 for those of Ashkenazi descent. While the breast and ovaries are at the highest risk, the chance of pancreatic, bile duct, and skin cancer is also higher. Men with BRCA mutations have a higher risk of prostate cancer and male breast cancer. The mutation is passed on from either parent and usually affects 50 percent of the offspring.
Further testing found that my mutation came through my father; he is a single child, hence it looked like the mutation had skipped a generation between me and my grandmother. The gene was passed on by my grandmother who had breast cancer and later died of pancreatic cancer. Delving deeper into my family tree, we found that her mother (my great-grandmother) had died at twenty-nine of “undisclosed” illness.
The way to find out whether someone carries a mutation is through a blood test, or now more commonly a saliva sample. Genetic testing is made available by several companies, and the costs have decreased drastically to as low as $100. And anyone can ask for the test.
I wish I had known about my mutation earlier. I could have been spared the diagnosis of breast cancer. And it was only great luck that my tumors were diagnosed still at stage 0, early enough I was spared the need for chemotherapy and hormonal therapy. Many patients I work with are not so fortunate. Countless young women present to the clinic with large breast tumors or even metastatic disease that could have been prevented by knowing about the mutation.
I had undergone a prophylactic mastectomy, however the BRCA2 mutation now also put me at risk for having ovarian cancer. The risk for ovarian or fallopian tube cancer for someone with a BRCA2 mutation is about 20 percent, and more than 40 percent for those with BRCA1; I also had a higher risk of developing pancreatic cancer.
So within a few months I was back in the operating room for more surgery, this time to remove my ovaries. While the risk for ovarian cancer is not as high as breast cancer, there are no good tests for early detection of ovarian cancer. Most women with ovarian cancer therefore present with ovarian cancer that is at an advanced stage, and almost all women require extensive surgery and chemotherapy.
Yet knowing about the mutation had its challenges with profound implications for my family. My beautiful daughter had just turned eight. She had watched me go through a double mastectomy and reconstruction. Now she would have to see me go through more surgery and endless cancer screenings. I had to live with the knowledge that there was a 50 percent chance that my gene got passed onto her, and my fate might be hers as well. And what about my two boys who could also carry this gene? Their cancer risk is increased for prostate, pancreatic, and even breast cancer.
Because breast cancer does not usually present until one is her mid-twenties, we usually do not recommend testing girls until they are around age twenty-five. We have a little more time with boys, as prostate cancer usually does not occur until age forty. My children have time before they need to know their fates, and when it is time the decision will be theirs on whether to know and what to do.
In families with BRCA mutations, I recommend that all members of the family should consider testing for the cancer gene, but not before they are ready and able to handle the results. There is a silver lining—for example, if my daughter does not carry the gene (a 50 percent chance), she will have no reason to have a mastectomy. And mutation-carriers could avoid passing the gene onto their own kids. We can now consider a fertility technique called Preimplantation Genetic Diagnosis (PGD). After using IVF, we can take a tiny piece of an embryo, to test for the mutation and implant a BRCA negative embryo, ensuring the future generation will not have the mutation.
Fortunately, however, with every year we learn more about new breast cancer gene mutations and risks. These findings arm us with more knowledge to prevent unnecessary surgeries even among high-risk women; and hopefully, even if my daughter carries the gene, but the time she will be of age mastectomies will be thing of the past, and those at risk for cancer will have the time and the knowledge to undergo the appropriate preventive measures rather than being diagnosed out of the blue.
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