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This blog is created to give you a central location to answer any questions you have about my current and upcoming treatments and reactions. It is also created to help me make Lemonade out of the Lemons I have been given, so I will keep this as positive as I can.







Wednesday, December 1, 2010

Genetic testing results are in...

At the beginning of this journey we were asked to take a genetic test to check me for a Gene mutation for BRCA 1 or BRCA 2. These Mutations are strains that can cause most cases of hereditary Breast and Ovarian cancer. I got a call from the Surgeon yesterday during Chemo to tell me that I do not have those 2 genes specifically. Hooray! However... I do have a 'genetic variant of uncertain significance' This is a variant of the BRCA 1 listed as Y1863D (5706T>G) Whatever that all means. LOL but it could be a factor that has caused my own Cancer.
At this point the Dr said there are only a handful of Breast Cancer patients that they have identified this gene, so they are trying to get a better idea if there are family members who carry this gene that Have or do NOT have cancer of any type.
I am filling out a survey of my family members, including my first cousins, to see if anyone qualifies for a free genetic test to see if anyone caries this variant and to see if it means anything. If anyone in my family does not want to be included let me know so I can note it as such on my survey. This may not cost anything for you and may or may not tell you anything, but it may get you seen earlier if you have any other risk factors down the line. I am also not sure if I can include relatives without blood relation who have had Cancer. I will be asking this since I know that there are others that may be able to be reviewed, just in case they carry that gene mutation.
I hope that in doing this it will help others down the line. There is some "fine print" that states that they may not be able to answer my own risk right away with this assessment, but it could... So it may be worth something.

7 comments:

  1. Interesting. I guess it's just a blood test? It would be good to know I guess.
    Let me know if you want me to take the girls or come over and keep track of them at some point :)

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  2. Suz, For me it was just a mouthwash. Very non invasive. I will let you know if they will qualify you for a free test.
    I will keep you posted if I need ya for something else too. :)

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  3. Before I got BC I didn't know of anyone in my family who'd had it on either mom's or dad's side. No one has ever approached me about taking the BRCA1/BRCA2 tests but it would be interesting to see if we have the same genetic variant. I don't know if I would qualify since we are first cousins once removed, or second cousins??? ...or is it twice removed? I don't know.

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  4. Melanie, wow, I have heard a lot about that Brca genes and would love to know more. I was surprised by your diagnosis, especially so young because I thought our famiy history was clear as well, but you just never know. Anything I can do!!! JaNel

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  5. They told me that they don't normally do this BRCA testing when there is not a strong family history, but since I am so young they wanted to see if there is something getting passed through somehow not manifesting it in evereyone. So maybe this little variant is a dormant gene that only shows up every once in a while. I will put you on my list JaNel, we'll see if it rules anything out for you at the least. :)

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  6. That sounds cool. I'd be happy to be on the list.

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  7. Melanie,
    I'm Alyson, LaVonda's daughter. Thanks for sharing your experiences. If Mom is 2nd then I'm third cousin or something. We might not even be related haha. But I'm interested in BRCA testing. How would it be free and what other info can you give me?

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