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.
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.
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
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?