trshtwns01 (trshtwns01) wrote,
trshtwns01
trshtwns01

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.
Tags: brca
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