Some news

Hmmm, is this good or bad news?

At first glance, it looks like pretty bad news. I mean, a big bold letters that say Positive for a Deleterious Mutation can’t be good. I mean, I did antonyms and know “deleterious” and “good” are pretty much opposites.

But I got the results of my genetic testing and they had that title and it really doesn’t feel like bad news. It’s information about my breast cancer and information is good. It goes a very long way toward explaining why I got cancer in the first place. (Apparently a lot of cancer patients spend a lot of time wondering “why me?” Given my family history, I sorta knew why me. Now there’s no doubt.)

Officially, there’s it’s a germline BRCA2 mutation 2024del5, resulting in premature truncation of the BRCA2 protein at amino acid 599. On average, among those with this mutation, there’s an 84% risk of breast cancer by age 70. Of course, I have a 100% chance…

Okay, so as Charlie says, this says I’m defective, but it’s not like this is any news. And it gives us great information to make decisions with the surgeon tomorrow.

So let’s just assume that this is good news.

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1 Comment »

  1. alyssum said

    My family has the same mutation as you. I am been trying to find more information about it…somewhat out of curiosity, somewhat as part of my own interest in family history, and a lot of it is just trying to make sense the risks that my family and I might have. You can see what I have found so far on my post at FORCE. If you want to add your info, please do or you can email directly. Thanks!

    http://www.facingourrisk.org/messageboard/viewtopic.php?p=294081#294081

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