Powered by WebAds

Monday, March 23, 2009

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

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,


Anonymous said...

yashar koach for partcipating! seperately - will the next results affect your treatment plan at all?

have you talked to your kids about the implications of their locating a genetic mutation responsible for your cancer?


ps- i coudn't find the PJ's anywhere!!! sorry. someone suggested buying the fabric and having them made. what do you think?

RivkA with a capital A said...

will the next results affect your treatment plan at all?
who knows??

have you talked to your kids about the implications of their locating a genetic mutation responsible for your cancer?
way too early for this! about what would I talk to them? everything is purely hypothetical. the possibilites are infinite.

What PJs????

Anonymous said...

RivkA, I'm the third generation I know of with Breast Cancer, and like you, I'm negative for the BRCA genes that they test for. My daughter is the 4th generation at risk. She knows. But I've also told her that why she's my age or the age I was at dx., hopefully there will be a simple treatment or cure. Medicine has advanced more in the last 10 yrs. than in the previous hundred yrs.! So I must remain hopeful. I can only pray now that G-d grants me the length of days to see her grow up and have a child of her own. Metastatic BC sucks big time!!!!! Only a very small percentage of BC patients test positive for the BRCA gene mutations. Be well.

RivkA with a capital A said...

I'm also the 3rd generation with BC.

If you live in/visit Israel, you should join the study. If you mom is still alive, she should join the study too. (It is best for the research to have more than one family member who has had BC).

Our daughters need to start getting checkups and mammograms at age 25.

The question is what percentage of BC patients with a family history are BRCA positive?

Do you also have metastatic BC? Do you live in Israel? If so, email me at coffeeandchemo@gmail.com

Gila said...

How do you get tested for this?

RivkA with a capital A said...

I am pretty sure you need a referal. I got mine from my surgeon, but you might be able to get one from your GP.

Then you make an appointment to meet with a genetic councelor and, after your meeting, they just take a small vial of blood.

That's it.

It's really simple.