BRCA Genes -- How Do They Fit?

Have you been tested for the BRCA gene mutation? If so, a local journalist is interested in interviewing you!

Please contact Laura Kusisto at 052-689-0958 or Laurakusisto@gmail.com
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Knowlege is power.

The more we know about our bodies, the more informed our choices about our health care.

I come from a family with a history of breast cancer.

When my surgeon first suggested I test for the BRCA genes (pronounced "BRA-ka"), my mother advised against it. She was concerned that, in the US, if you test positive, the results can affect your insurance coverage. (I do not know if this still true)

I do not live in the US, nor do I have American medical insurance. However, in deference to my mother, I did not get tested.

Until I was diagnosed with breast cancer in the summer of 2005.

All of a sudden, knowing the results of the BRCA test had far wider ramifications, they would determine my health care decisions.

The 3 most common gene mutations which cause breast cancer among Jewish Ashkenazi women are found on the BRCA1 and BRCA2 genes. Not only do these mutations lead to higher incidence of breast cancer, they also lead to higher incidence of ovarian cancer.

Today, we have excellent early detection methods for breast cancer: annual mammograms, bi-annual manual exams by a surgeon, and, of course, monthly self exams.

Unfortunately, the same cannot be said for ovarian cancer. Often, by the time ovarian cancer is detected, it has metastasized and the prognosis is not great.

Women who test positive for the BRCA mutation are advised to have a profilactic oopherectomy (removal of ovaries) by age 40.

I was 39. And a half.

Though I was was tormented about what surgery to perform on my breasts (lumpectomy, single mastectomy, or bilateral mastectomy), I knew that if I tested positive, my ovaries were coming out.

To my surprise, I tested negative.

Given my family history, I knew that I had a genetic predisposition for breast cancer.

I worried that perhaps I had a less common mutation on one of those genes; I wanted a full sequencing of the genes.

The geneticist as Sha'are Zedek patiently explained that full sequencing is not done because other mutations are so rare that there is no justifying the cost of full sequencing (several thousand dollars, if memory serves me correctly).

Furthermore, scientist know there are additional genes that are associated with breast cancer.... these genes just have not been identified yet. It is far more likely that I had a mutation on one of these other genes.

So, for now, the ovaries were staying in.

Several months later, the geneticist contacted me. Prof. Ephrat Levy-Lahad, the head of the genetics department, began a new research project, searching for these additional genes. Would I be willing to particpate in her research? (Is the sky blue?)

I did not need to do anything. They could use the same blood sample.

As part of the research, they would do a full sequencing of my BRCA1 and BRCA2 genes, to eliminate any possibility, no matter how remote, that my breast cancer was caused by a less common mutation on those genes.

The full sequencing took over a month. Eventually I received the results. This time, I was not surprised by the negative results.

Now, I am waiting to see what the new research reveals...



Please daven (or send happy, healing thoughts) for RivkA bat Teirtzel.

With love and optimism,
RivkA