BRCA Mutations: Not Quite Xmen Style

Earlier last week, Angelina Jolie made headlines with her decision to remove her ovaries and fallopian tubes.  A few years ago, she tested positive for a mutation in her BRCA1 gene that makes her pre disposed to having breast and ovarian cancer.  To be proactive, she has chosen a full mastectomy, and her ovaries and fallopian tubes removed

Ironically, I started the process for genetic testing last week to see if I carry the mutation.

The request was made in November 2013 after my diagnosis and only now am I starting the process.  It is a very costly test and obviously there are priority cases ahead of me (couples trying to conceive, children born with something that could be tied to genetics, etc)

A year and half after diagnosis, I enter CHEO to speak with a genetic counsellor. 

The cause of cancer can be broken down into three categories:

60% - is sporadic

30% - is familial (multiple reasons)

5-10% - is hereditary

Hereditary cancer is suspected when several family members in more than one generation are diagnosed before the age of 50 with cancer.  Geneticists look for patterns in the family’s medical history

We begin by reviewing my cancer diagnosis, treatment and then review my family history.

“Boy, do you ever have a small family!” She remarked

“Yeah,” I think to myself “and this is exactly why I fought so hard for testing.”

The original observation was there was no family history of breast cancer but once you draw my family tree, you will also see there are not enough women/people to form a strong opinion, one way or another.  I am an only child, so was my father and few women when you reach my grandparents’ siblings. 

The first observation was that a paternal great aunt who was also diagnosed before the age of 50.  There are a couple of other noted cases of cancer but that occur later on in life. 

She then asks if any of my parent’s first cousins have cancer.  Now growing up in a small community where everyone is related, answering these questions is relatively easy.  Jeez – I can back as far as third cousins’, twice removed if she wishes.

Then she asks if there is any Jewish ancestry in the family.  I mention, not thinking it would be relevant, that apparently my great, great, great grandmother was Jewish.  I walked into this counselling session with a 1.6% chance of carrying the mutation.  Now my chances for testing positive, just shot up. 

“Really?”  I ask “But we are going back to late 18^th century!” 

It doesn’t matter how far back.  The instant there is any trace of Jewish ancestry, the chances of testing positive are higher.

The counsellor then reviews the type of treatment options I may want to consider should I test positive:

Breasts: Frequent MRIs, in addition to mammograms or a full mastectomy

Ovaries: Testing for ovarian cancer is very difficult (internal ultrasounds can be performed but since it is hard to even find your ovaries on the ultrasound, finding cancer is even more of a challenge).  You can test your CA125 levels, which at this time I am not sure exactly what that means or you can go the surgical route and remove ovaries.

Maybe it is considered dramatic but I am in favour of the surgical route for both.

Since I am not planning on having children, this is not an issue.  After experiencing a post chemo menopause during the summer, if there is not urgency to remove my ovaries, I would likely wait a little while longer before I have the surgery.  Hot flashes are about as exciting as jabbing myself repeatedly with a fork.

We also discussed the pros and cons of knowing if I carry the BRCA mutation;

Pros:

1.        It will explain why I got breast cancer in the first place

2.       I will know if I am at a higher risk for a reoccurrence but look at the above options to reduce my risk

3.       It will alert my family that the mutation is in our family and they can monitor themselves accordingly

4.       Family members can also test to see if they have the mutation

Cons:

1.        Create a constant worry – Am I ticking time bomb?

2.       Parents can feel extreme guilt with regards to causing their child to develop cancer

3.       Tension within the family.  Some family members may want to know as it creates anxiety.

4.       Difficulty or Inability to get life insurance

Wow!  I didn’t think of the cons and how it would affect my loved ones.  I am fine with myself – I already battled cancer and in my head, I wouldn’t be shocked if it returned.  I just expect it much later in life the second time around.  But the thought of my parents blaming themselves or causing stress on others as they try to start their families with this knowledge in the back of their minds, etc; made me feel really sad.  And I started to cry…and I continued to be emotional about it throughout the day.

The next morning, I discussed the pros and cons with my dad.  I should have figured he has no guilt and assured me that this test would help the family in taking care of themselves and getting checked regularly – which ultimately is a good thing.

Getting back to the testing

I decided there was no turning back while I was at the counsellor and moved forward with the testing. 

It is a simple blood test and results take 4-6 to return. 

I go to the lab in CHEO to get my bloodwork done.  I tell the technician that I am more of a “baby” when it comes to drawing blood than the four year old that was ahead of me.  She offers to freeze my arm.

“You can do that??”

Now why don’t they do that anywhere else?  That would have saved a whole lot of headaches.

“Can I have a sticker?”

I sort through the drawer and select Spiderman and Hot Wheels stickers for my nephews.

And now I wait for the results