Life in the Slow Lane

Life in the Slow Lane

Thursday, September 21, 2006

TMI or The Post That Makes You Want To Run Screaming From Your Computer

I mentioned genetic testing in my last post and, silly me, didn’t think that some of you might be wondering what that is all about and what it means for me and my health in the future. Let me ‘splain it to you so you know what I am talking about.

Quick Science Lesson

Everybody is born with 46 chromosomes, a full set of 23 from the momma egg and full set of 23 from the papa sperm. That means we have 2 of every chromosome. Each chromosome is made up of units called genes. We also have a pair of each gene – one from each parent. These genes control all aspects of our body from eye colour to cell division. Sometimes a gene will mutate and not work properly. This can happen from exposure to chemicals or other environmental factors, aging or is inherited from a parent. All cancer is a result of gene mutations.

Now if you do have a gene mutation that does not necessarily mean you will get cancer because you have the other gene in the pair that works properly and does the job that it is supposed to. Only if BOTH genes in the pair are mutated does cancer occur. When both genes in the pair mutate then they divide like that on a cellular level and that is cancer. Most cancers happen later in life when both genes in a particular pair are mutated due to the various factors over time. Some people get cancer earlier in life because one gene was mutated from birth due to it being inherited that way and then the other one mutated from those other factors.

How This Relates To Me

There have been two genes identified that contribute to the formation of breast cancer. They are BRCA1 and BRCA2 and seem to usually come from the mother’s side of the family. To have either one of these genetic mutations increases a woman’s lifetime likelihood of getting cancer by 50% - 85%. However, this mutation only accounts for about 10% of breast cancer so most breast cancer is not from this inherited gene mutation. It is from other causes we really don’t understand yet.

Because I was 35 years old when my cancer was diagnosed and I do not have any family history as I am adopted I am eligible for testing to see if I have either of these gene mutations.

So why bother, you may ask? You have had both your breasts removed so who cares if you know if you have the mutations now.

Good question.

It also turns out that having the BRCA1 mutation increases my chances of getting ovarian cancer 20%-45%. Having the BRCA2 gene means an increase in ovarian cancer risk up to 20%. The general female public only have a 2% chance. Testing positive for either of these genes may mean it might be a good idea for me to get my ovaries removed since there are really no early detection methods for ovarian cancer. This might be a good option for me as my cancer is also estrogen receptor positive which means my own estrogen makes my cancer grow. Knowing my genetic status will help me make this decision.

Now there is more. Very new information that is relevant to me. There is yet another gene mutation I might have. It is the CDH1 or E-calherin mutation. This gene mutation is found in one third of people who have diffuse gastric cancer.

So what does this have to do with me and my breast cancer?

Well, they are starting to realize that this gene is also associated with lobular breast cancer. That is the kind I have and it only accounts for about 10-15% of breast cancers so it is somewhat uncommon. Most breast cancer is ductal breast cancer. The difference is that lobular cancer is in the lobes (milk production areas) of the breast while ductal cancer is located in the ducts (how the milk gets from the lobes to the nipples) of the breast.

They have discovered that women who have the CDH1 mutation have about a 39% lifetime chance of getting lobular breast cancer. In addition to that women have an 83% chance of getting stomach cancer.

Holy shit!

If you have the CDH1 mutation medical professionals STRONGLY suggest you have your stomach removed.

Double holy shit!

So I am being tested for the BRCA1 and 2 mutations as well as the CDH1 mutation because of my young age when diagnosed and the type of breast cancer I had.

It will take 6-12 months for these tests to be done as there are very few labs that do this kind of testing in Canada and the backlog is huge. Our healthcare is paid for by the government so it is not a big commercial enterprise.

The chances of my having any of these mutations are very small but since the potential future health issues are serious I want to know so I can be pro-active with my care. The downside to getting this information is that if I ever had to get private healthcare in the future I would be legally required to disclose my genetic testing results and that would affect my coverage.

What do you think you would do?


whfropera said...

um well, shit. math science bad for artists - are you sure you're an artist still? You seem WAY too knowledgeable about this.I would be hiding my head in the sand and crying.
:) hang in there, fellow adoptee. I'm telling you, we're sisters - I'm adopted too.

MrsDoF said...

If I was your age, and the financial strain was taken care of, I'd go for the tests.
Since I made it to age 50, and employer health benefits are on the bargaining table, I'd take my chances.
There are times when I _wish_ I was adopted so I could ignore my relatives with a clear conscience.

JP said...

I think you also have to consider what emotional strain it could have to find out the test results. How will it change what you are doing now, and how will it really change your outlook on your future and your life? All those things are important as much as your physical health. For some people, they want to know as much as possible. But others would rather not know and live as normal as possible and keep their normal screening appointments. So it sort of comes down to how you're wired I think.

Candace said...

Well, geez. I don't know. I suppose I'd get the tests. Knowledge is power, right?

And, hello? How did I not know you were adopted? Not that it makes any difference; your parents are clearly awesome. did I miss that?

Madame D said...

Well, look at it this way. You could get tested and NOT have them, and then the issue of future private insurance wouldn't be a problem.
If you do have them, I think it's better to know BEFORE things start getting freaky, rather than after, especially since you have the chance to do it. Nothing may come of it, or it could be an early warning for other cancers.

alan said...

I won't even begin to say one way or the other, but I know if you do I will be hoping for a whole bunch of negatives!

Thinking of you...


hemlock said...

"If you have the CDH1 mutation medical professionals STRONGLY suggest you have your stomach removed."

Wow Kranki... that's one hell of a statement to contemplate.

We have something similar going on with us, regarding genetic testing. It's scary stuff. Do you want to know? Or live not knowing?

Tough question.

Anonymous said...

Knowledge is power-have the tests.

: )

east village idiot said...

Kranki - thanks for educating me about this stuff. It's incredible. A friend of mine is doing similar testing at Memorial Sloan Kettering here in NY. You are brave and generous soul. Now if you'll excuse me, I have to go beat up your super.

Jeannette said...

Freaky about the CDH1 mutation, isn't it? I was only BRCA tested and have since requested the CDH1 test after reading about it and knowing that three of my father's siblings died of stomach cancer. Then again, breast cancer (though I'm the only lobular) is much more prevalent, and I tested negative for the BRCA 1&2. So who knows? Sometimes I wish I didn't know my family history because it isn't all that great and it constantly makes me wonder. Sometimes I wish we could just stop the madness, you know what I mean?

eclectic said...

Big questions, Kranki. I'd get tested I think, because not knowing would drive me mad. But I'd really WANT to not be high-strung, and not get tested. But that'd be just wishful thinking, and I'd probably end up having the tests. Follow your gut instincts, I say.