My life as a mutant

new mirror

I am currently making a photo calendar of our travels. Regensberg

Salzburg

Last night I met up with my fellow (though all female even though both sexes are equally blessed with these genes) mutants. We meet 4 times a year though I missed a few meetings due to my travels. We were equally divided last night into BRCA1 and BRCA2 carriers though in the past, CHEK and PALB people have shown up. All were younger than me and had much stronger family histories than I have. Families in which every female gets ovarian cancer in their 30s (surprisingly BRCA2 which usually strikes later). There were women in their 30s who are trying to finish their child bearing so they can remove their ovaries before cancer strikes. They do have mastectomies before the babies as breast cancer develops even earlier, breasts not absolutely needed for pregnancy, and pregnancy floods the body with hormones that spurs breast cancer on. Some of them are going to preselect their embryos so as not to continue these awful genes. This is a divisive  issue in mutant world as we would not exist had our moms this option. Playing God?

In some ways I am glad that I found out so late as there aren't so many decisions to be made though it would have been real useful to know it when I had breast cancer so I would have gotten a mastectomy 12 years ago. But then I would have to tell my children and they would have been tested and then I  might not have had so many grandkids. If I knew about my bad gene when I was younger, would I have gotten a mastectomy before I could get cancer? These ladies that night had little trouble with that decision as they had seen their moms die of breast cancer. Of course insurance now covers these preventative surgeries but they didn't previous to Obama care.

Not all BRCA2 mutations are the same and there are thousands of them. A few keep recurring within a given ethnic group so predicting its lethality is easier. The commercial genetic test 23 and Me only tests for one known BRCA2 (and two BRCA1 mutations). I have known people think that that since they tested negative they are free and clear. Yeah in very small print they are warned. But the less common ones, how do they tell? My mutation is known and classified as 'pathogenic'  Through lots of searching, I discovered it is Norwegian in origin. According to Ancestry, I am only 3% Norwegian and I could have inherited that on either side. What were the chances of a person of  Northern European ancestry having one of the BRCA mutations? 1 in 800. If I were Ashkenazi Jewish? 1 in 40.

The big red flag in my case is having triple negative breast cancer though that is more strongly associated with BRCA1. I was a bit old to have it though (and now I am even older so I am just hoping my risk has decreased a lot; removing my ovaries further decreases it along with keeping my body fat to a minimum)  When I was diagnosed with cancer, my mom was the only one who had cancer (at 64 nd not an aggressive kind) I knew of no one who died young except from accidents or suicide. Lots of relatives living on both sides until their 90s. On my father's side, there was a great aunt who died in her 30s, of what I am trying to track her down. Has a very common name.

Fingers are pointed at my mom's side as she did have breast cancer. Later her sister had a very early form of it. I only recently learned a cousin died at 55 with biliary duct cancer, which could be BRCA2 mediated. I contacted his widow to warn that their adult children should be tested. She promised to send me the results but that didn't happen. Either she blew me off or the kids refused to be tested. When I warned my cousin, the one I am closest to and whose mom had breast cancer, she stopped speaking to me. Yes we do shoot the messenger. Did she warn her adult  children who are having babies? Probably not. Should I warn her children and my other cousins adult children?

The consensus of the mutant group  is YES!!!! I could be saving their lives though all of them have run into the  same problem with various family members.

These cancers caused by gene mutations keep occurring at earlier and earlier ages with each generation. The usual figure is 10 years. I was 9 years younger when I was diagnosed than my mom. what about her parents? Her mom died in her late 80s had had plenty of long living siblings. Her dad was only 72 but died of Parkinson's. These BRCA mutations effect women more lethally than men. so my ancestors had to be carrying these genes but maybe something else killed them before cancer could get to them.

On the surface it looks as if I have BRCA light, as it hasn't affected many family members. Molecular biologists can somewhat predict how bad a mutation is by the position of the deletion. Doesn't look good there. But also there are two many databases that track all that are tested and what effect a given mutation it has on the family members. One is called ClinVar where most testing companies (but notably not Myriad) load their data. Myriad prefers to keep its own data base which is quite large as they had a monopoly on testing the BRCA gene until 2013. They do not share much to the consternation of physicians and genetic counselors. I find them irresponsible.

Recently there was an article in the Wall Street Journal about a BRCA2 family. One of the members was tested because she had breast cancer and she had the gene. She urged other members to be tested including several women in their 30s who weren't finished having children. They didn't want cancer however and had their breasts and ovaries removed. Then a few years later, Myriad contacts them  tell them their gene has been downgraded from 'pathogenic' to not pathogenic based n their database, which was mostly this family's genes. They were pissed!  I would be happy though. I can minimize some of the risks of certain cancers but not all of the, And it would be a relief to know that my children and theirs and theirs would not have to deal with this. ClinVar still classifies their gene as pathogenic though.

One of the dumbest comments I read online was from some idiot who thought the chances of getting ovarian cancer of 25% wasn't high enough to justify removing her ovaries. As HE put it, if a sport team had a 75% chance of winning, he would definitely put money on it. But he fails to see the difference in the case ,if the sports team loses, he is out a few bucks. If she ends up with ovarian cancer, she'll probably die or at the very least go through horrific treatments.

Things can be quite messy in mutant world.

And now outside is all white. Another storm. Waiting impatiently for spring.