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BRCA mutation



I had blood taken some time back for genetic testing. The breast cancer gene tests came back and the oncologist called me into his office this afternoon. They found a rare mutation in the BRCA2 gene. Of all of the people in North America who have had genetic testing, 13 people have this particular mutation. That means they don't know a heck of a lot about it. For what it's worth (which is nothing) it is a V1610M Mutation, where mthionine is substituted for valine at amino acid position 1610 of the BRCA2 protein.

No, it didn't mean anything to me either.

I've got a really strong family history of breast cancer. My grandmother and aunt both had it, and my mother has had it twice. My grandmother also died of ovarian cancer.

Here is the plan and what we know so far:

- Because they don't know much about the hereditary linkage of this mutation, they are going to test my mom for free.

- We're also going in for a regular mammogram for her, a dignostic mammogram and ultrasound for me on July 10.

- I have to start having mammograms every 6 months, but with my fibrous breasts, he doesn't think it would change any outcome for me.

- People with mutations in their BRCA1 or BRCA2 genes have around an 85-90% chance that they will have breast cancer.

- I have had early detection of cancer (severe dysplasia or 'pre-cancer') twice - in my cervix and colon.

- My gyn is going to have to do an ultrasound and test the CA-125 to look for ovarian cancer.

- My strong family history, my mutation of the BRCA2 gene, and my personal cancer risks, one treatment possibility is a prophylactic mastectomy and immediate reconstruction.

- If my mom tests positive for the mutation in the BRCA2 gene, he absolutely recommends the mastectomy, as it would reduce my risk of breast cancer by about 90%. That could also be coupled with removal of my remaining ovary to further reduce risk.

- Michael and Matthew will have to be tested for this mutation when they get older. My breath just went away when he said that.

Ok, I have three things to say:

- I'm stunned

- FUCK!

- phenway, what was your mastectomy and reconstruction like, outside of the chemo and everything you had added to it? How bad are we talking here? I mean, I don't particularly care about my breasts, so I'm not having the stress over the idea of 'losing them', but any surgery has risks and pain involved.

Oh, let me add another FUCK!!!!! in there.



Now, back to your regularly scheduled life. Tomorrow morning is the first half of my neurotomy on my back, so I should be good and doped up tomorrow.

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Comments

( 13 thoughts — Whatcha' think? )
georgiaskydiver
Jun. 28th, 2006 10:33 pm (UTC)
wow. Just wow. That's a lot of heavy shit to throw at you all at once. Not that you didn't have enough stuff going on in your life as it is. Jeez!

Will your insurance pay for a preventative mastectomy? How long is the recovery time? Same questions for reconstruction.

What guarantee do you have that the surgery will prevent any future cancer?

How soon would you do this, if you decide to go this route?

You see, I have this open vacation time coming up in August, and by that point I'll have some nurse-maid experience following my mom's surgery. I could come out there and help take care of you and the boys while you recover. Just a thought . . .


Huge hugs to you. I can relate to that sick, hollow feeling you have in your gut right now.

On the positive side, thank God you had the genetic testing done. At least now you are looking at ways to proactively fight this demon, as opposed to defending against its invasion after the fact.

If there is anything I can do, please do not hesitate to call me.

xoxoxo (and a bunch of extra spoons)
trshtwns01
Jun. 28th, 2006 11:21 pm (UTC)
Thanks. I certainly won't do anything so soon. If you come out here in August, it will be for fun, not to take care of me :)

Hey, go look at Lake Austin Spa and Resort and see what you think about it. They have a summer special that you get a free day or 2 if you stay a certain number of nights. It's just an idea. I would be just as happy staying here, doing a day spa, and maybe one night going out somewhere and renting a hotel so we don't have to worry about driving around.

Anyway, I'm getting that mammogram and ultrasound in July, so that will tell me whether I am clear right now. If I am, that gives me plenty of leeway to make a decision about whether we want to take that drastic of a measure. In the meantime, I'll get my tests done every six months and try not to get too 'woe is me' about it.
maedb
Jun. 29th, 2006 01:40 am (UTC)
It also gives you plenty of time for a second opinion. Consider it, okay?
trshtwns01
Jun. 29th, 2006 01:49 am (UTC)
Oh, I am DEFINATELY getting a second opinion on everything. I want to get the results from the diagnostic mammogram and ultrasound first, so I can take that and my last mammogram to the second doctor. I want to go to the doc I took my mom to for her breast cancer the second time, Dr. Blumenschein. He moved here from M.D. Anderson in Houston and was just amazing with her. I love this new guy, and will stay with him (especially if we choose to do something), but I wouldn't trust anyone other than Blumenschein with the second opinion on it.
trshtwns01
Jun. 29th, 2006 01:50 am (UTC)
Then, I will learn how to spell DEFINITELY
trshtwns01
Jun. 29th, 2006 12:14 pm (UTC)
Forgot to answer your questions *laugh*

Yes, the oncologist says insurance would usually pay for a preventative mastectomy. I don't know what the recovery time would be. I'm not doing anything for a while (unless they find cancer), so I have plenty of time for research.

As for how much it would help? The research I did last night pretty much says that having the mutation in this gene increases the chance that I would get breast cancer in the next 10-20 years from 12% to about 85%. A prophylactic mastectomy would reduce those chances by around 90%.
maedb
Jun. 28th, 2006 11:14 pm (UTC)
fuck.
trshtwns01
Jun. 28th, 2006 11:21 pm (UTC)
Yeah.
allykatt
Jun. 28th, 2006 11:35 pm (UTC)
ly. mi.
parab0lic
Jun. 29th, 2006 02:12 am (UTC)
:(
I have a history of breast cancer in my family too. Although it isn't as rare a situation as yours. I hope, with everything I am, that it will all be okay for you. I'll be sending lots of thoughts and prayers to you for the next few months. I'm sure it doesn't mean much from a stranger like me, but it's all I can do. Unfortunately. :\

-hugs-

Try not to worry about it. Although I really shouldn't be saying that because I tend to worry about everything. But don't worry.
trshtwns01
Jun. 29th, 2006 02:27 am (UTC)
Re: :(
Oh come on! Fellow Sheltie owners are family automatically, right? :)

Thanks.
rexs_wife
Jun. 29th, 2006 03:28 am (UTC)
Ahh, FUCK! I think that's all I have to say. Oh, and ((HUGS))
oddharmonic
Jul. 7th, 2006 03:21 pm (UTC)
Vogon explained to me how protein mutations happen, but I'm still just floored by what an impact it can have.

After having a radical mastectomy of one breast, my grandmother asked the surgeon about getting the other one removed so she could work in the garden without a shirt on.

Let me know if there's anything I can do for you.
( 13 thoughts — Whatcha' think? )