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Genetic Testing For BRCA Gene Mutations

Four years ago I traveled to Mayo Clinic in Rochester, Minnesota to meet with a geneticist to help my family decide if my mother should be tested for the BRCA1 and BRCA2 gene mutations. Too many red flags “screaming suspicion” had been raised. Other members of my family were there as well. We crammed our folding chairs into the small stuffy room, clearly not intended for so many people at once, and listened attentively and somewhat nervously to a potentially life-changing biology lesson that day.

Detailed information about our family tree was meticulously gathered and recorded as if we were a family of worldly importance. Books, pamphlets and diagrams were then carefully presented and explained to us in an effort to clarify the potential secrets of our DNA. The whole discussion had a very serious air about it and clearly there was a definite protocol to follow.

You have to know what you are getting in for if you decide to pursue genetic testing. In other words, you have to live with the results.

Two weeks later my mother’s test came back positive for the BRCA2 gene mutation and the focus of her attention shifted from herself to my siblings and me. Suddenly she became obsessed with convincing us to be tested as well. At that time I had little interest in being tested. I wanted more time to think about it. I rarely rush into anything. I’m the kind of person who likes to “mull” things over and I thought I had plenty of time to do that. I was wrong.

Following my diagnosis last spring I felt backed into a corner. Not being one to “beat around the bush,” my oncologist clearly presented my options. If I, too, tested positive for the BRCA2 mutation, a bilateral mastectomy was the only reasonable route to take in his opinion. If I didn’t choose that path, statistically the chance of recurrence within five years would be too high. On the other hand if I tested negative, a lumpectomy could be a logical option. Suddenly much was riding on my DNA. Cancer didn’t allow me the luxury of “mulling over” my decisions.

The obvious next step was to get the blood test I never wanted and wait for the results to come in.

Genetic testing is still a new frontier; we are just beginning to uncover secrets of DNA. More importantly, science is just figuring out what to DO with those secrets once they are discovered. Just knowing you have some mutated gene isn’t important if there is nothing for you to do with that information.

Not surprisingly, my thoughts about genetic testing have also changed since my diagnosis. I’m not sorry I waited to be tested. I wasn’t ready. But I am definitely very glad I was tested after my diagnosis. The impact the result of that test had on my decisions about my cancer treatment was huge.

I now believe a person should seriously consider having a genetic test if red flags are raised indicating “too many” cancer cases in their family. Your doctor should be able to help you with this decision.


1. Do you REALLY want to know the answer or information? This sounds pretty obvious, but it’s not; once the knowledge is out you can’t “put it back in the bottle.” You must live with it.

2. If you test positive, what will you DO with the results?

I worry the cost of genetic testing is prohibitive to many. I worry about the monopoly one genetic testing company has on some of these tests, but those are posts for another day. I’ll definitely have more to say on this topic later.

An excellent resource on this topic is:



Friday 2nd of May 2014

I am from Australia, My mother and aunt died of ovarian cancer their mother (my grandmother) died of breast cancer, I went through the genetic testing centre they were great and the chances are extremely high for me ending up the same. I chose to have my ovaries removed and there was a change in cells, extremely lucky I would say, but they cannot offer me the mutant gene testing until I find someone in the close family who has or had cancer and still alive, unfortunately I can't find anyone and certainly can't afford to pay privately...hardly seems fair.


Saturday 3rd of May 2014

Wendy, No, nothing about it is fair. Keep asking questions. Maybe there's a solution and/or some way to help with the cost. Hope you get some answers.


Thursday 28th of November 2013

Thank you for writing about this.

My own situation is slightly different and I am in the UK.

I was diagnosed with E+P+H- early stage Lobular cancer in January. I had a lumpectomy, chemo and radiotherapy.

When I was diagnosed I was asked if I had any relatives who had had breast cancer. I was adopted at 3 weeks old and despite finding out in the 90s who my birth mother was, I did not wish to enter into a relationship with her. It would cause all manner of problems for me.

Because everything happens so quickly when you are first diagnosed and your head is full of the changed life facing you, it's hard to remember everything you need to say. I did say to the surgeon that if there was any chance of this cancer returning I would like a bilateral mastectomy and reconstruction done immediately. The surgeon and the nurse basically told me to shut up. They said they wouldn't have that conversation with me and it was no point in me pursuing it, because the matter was not up for discussion

I got an Oncotype DX done and my tumour landed me at the high end of the intermediate risk group for recurrence, hence the chemo.

At some point during chemo I remembered that my biological grandfather on my birth mother's side was Russian and Jewish. Then I learned about the incidence of BRCA1 and BRCA 2 in the Askanazy Jewish populace.

I have to go to a follow up consult this afternoon, with my medical oncologist. There he will try to convince me that the endocrine drugs won't wreck my quality of life and I must be a good patient and take them.

I am going to ask him about getting a gene test for the BRCA genes. I think that when someone is adopted, and it's not possible to get a familial health history, an individual should not be excluded from this test.

Even after this year of nothing but cancer treatment I would still rather know than not know

Your post has bolstered my confidence in asking for this test.


Thursday 28th of November 2013

Lorrie, I'm sorry about all you've been through. It sounds like some of your medical team has been far from stellar. Not discussing things that you wish to discuss seems wrong. I hope your follow up appointment went okay. Good luck with things. Keep me posted and thanks for reading. I'm glad you found this post helpful.

lopsided blogger

Sunday 14th of November 2010

I was repeatedly offered genetic testing since I was only 37.5 at the time of my multifocal IDC diagnosis. I didn't want it, mostly because none of my relatives had ever had cancer and I was sure I would test negative. Then after they found some complex cyst on my ovaries and wanted to take everything out, I had the test to give me more information. My result was negative, and I decided to wait and see on the cysts, which eventually resolved. Now, though, I have three new complex cysts on the same ovary--left side, where my cancer was. And they're big--6.5 cm, 3 cm and 2 cm. I go on Monday to my onc, so hopefully she has some ideas before cleaning house. We'll see. I'm glad I had the genetic tests, and I'm also glad I waited until I really had no other choice. That way I could deal with the results, whatever they were. Love your blog! Take Care.


Monday 15th of November 2010

Peggy, Thank you for finding my blog and commenting. I'm glad your test was negative for the brca. Sorry to hear about your cysts. I hope you get good news at your appt today about what to do with the darn things. Good luck dealing with everthing.

radiology technician

Friday 12th of November 2010

Pretty nice post. I just stumbled upon your blog and wanted to say that I have really enjoyed browsing your blog posts. In any case I’ll be subscribing to your feed and I hope you write again soon!


Thursday 4th of November 2010

Interesting post! I have considered getting a test done at some point, but after losing my mom to cancer, I'm not sure I could handle knowing if I DO have the gene. I worry too much as it is. Every little ache is enough to almost bring me to tears from anxiety and I'm only 22! My doctor is the one who found my mother's cancer, and she makes sure I get a thorough examination every year. My prevention for now is not letting any reoccuring pain go unnoticed!


Thursday 4th of November 2010

Sami, I'm so glad to see you back! I love your insights. Yes, the gene testing thing is a difficult decision to make. One has to be ready for it. You are doing the absolute right thing by staying on top of your health through yearly exams. Good for you! Try not to worry too much!

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