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November 18, 2017 | ‎כ״ט במרחשון ה׳תשע״ח‎

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I Got Breast Cancer, Like Many Ashkenazi Women, And Here’s What I Learned About Genetic Testing

I Got Breast Cancer, Like Many Ashkenazi Women, And Here’s What I Learned About Genetic Testing

This past summer, I was diagnosed with breast cancer.

It came as a total surprise because there had been no symptoms. I felt healthy, and I had no family history of the illness. I’m 41, an age where, I’ve since learned, about one in every 69 women will be diagnosed with breast cancer.

Right away, before I even started radiotherapy treatment, my breast surgeon referred me to a genetic counselor.

At the time, I didn’t know that I was at higher risk of being diagnosed with breast cancer because I was an Ashkenazi Jewish woman. I had never seen articles on this in the U.K., where I live.

It turns out that women with my background are more likely to carry three mutations in the genes BRCA1 and BRCA2, and that these significantly increase the risk of breast and ovarian cancer. About one in every 10 Ashkenazi Jewish women with breast cancer and one in three with ovarian cancer have one of the BRCA1 or BRCA2 gene mutations.

Interestingly, though, a recent study of 1,007 women of Ashkenazi Jewish ancestry diagnosed with breast cancer found that the majority, 903 of them, had none of the widely known mutations in the BRCA1 or BRCA2 genes.

Among them, 31 actually carried a different mutation related to breast cancer. And seven of these women carried still another gene mutation with a link to breast cancer. More research still needs to be done, as it’s early days when it comes to understanding the level of risk associated with the other mutations.

With breast cancer, many women are screened yearly, so it’s far easier to catch cancer while it’s at a relatively early stage. Ovarian cancer screening, however, is not routine, and a lot of women are unaware of the symptoms.

This is why genetic testing can, quite literally, save lives: too many women are referred to hospitals for suspected ovarian cancer only once their cancer has reached an advanced stage.

I made an appointment with the genetic counselor to get a test. He confirmed what I’d read online. I opted for a full panel just to be safe and to test for all the possible mutations.

I felt a little nervous; the genetic counselor told me that if I did test positive for a genetic mutation, I might consider, once I had finished having a family, removing my breasts and ovaries. There would be no immediate rush, but, like Angela Jolie had done a few years ago, taking preventative action could keep me alive.

I was newly single from a divorce when I was diagnosed, and I do not yet have a child. Thinking about the repercussions of a positive test felt overwhelming and scary.

When I had my blood taken in the clinic the day of my test, the nurse told me that, of course, potentially at-risk women would be screened for the BRCA1 and 2 gene mutations, as well as the other ones, too, preventatively – before dealing with a breast cancer diagnosis. I nodded emphatically at this notion, and, for what it’s worth, I plan to spread the word among my community of Jewish women in the U.K.

Genetic testing is a personal decision and one that has the potential to have wide-reaching implications. If you are seriously considering testing for BRCA1 and BRCA2, it’s worth asking about having a full panel test as well.

I’m glad I decided to have the full panel test, especially in light of the new research. For a few weeks, I waited expectantly for my results to come back from the testing site in the U.S. Fortunately, I’m clear of all the mutations.

A clear genetic test result means that I will never know the cause of my breast cancer, but it feels good to know that I won’t be passing a genetic mutation onto any children that I may have in the future.

My breast cancer was removed through a lumpectomy, and I had radiotherapy to blast any pre-cancerous cells which could have still been lurking. After a stressful summer, I’m now cancer free and filled with gratitude.

Find out more about genetic testing on Myriad or Color.

Author: Amy Schreibman Walter

Amy Schreibman Walter is a teacher and writer living in London. Find her on Twitter @amyswalter or at www.amyschreibmanwalter.com.