Finally Results

Genetic Variant – Suspect Deleterious

This is what my genetic test results said.  The doctors office faxed them over to me, but didn’t explain anything.  The nurse said that my GYN looked them over and was okay with the results and that was it.  So I went to the Myriad Genetic Lab website and clicked on the BRAC analysis and what do my results mean – http://www.bracnow.com/understanding-my-results/positive-results.php

If your test result is either “Positive for a Deleterious Mutation” or “Suspected Deleterious”:

■You have a mutation or alteration in either the BRCA1 or BRCA2 gene

■You have hereditary breast and ovarian cancer (HBOC) syndrome

■HBOC syndrome increases the risk of various cancers, primarily breast and ovarian cancer

■While the risk of developing these cancers is high, not everyone with HBOC syndrome will develop cancer

Tuesday afternoon I faxed these results to my surgeon, to the oncologist and to the radiation oncologist and didn’t hear back from anyone, so I made more phone calls today.  The nurse at the surgeon’s office called me back and said that Dr. Ortiz had signed off on the results, but didn’t leave any notes, so  she scheduled me an appointment for March 1st to discuss them with him.  I spoke to the nurse at the oncologist office and she said that she would show them to Dr. Salloum and then call me back.  Never heard from her.  The radiation oncologist was out of the office all week and they told me to check back on Monday. 

So I’m not really sure what the difference is between “Positive for a Deleterious Mutation” or “Suspected Deleterious” and if treatment options are different.  Maybe because mine is just suspected I won’t need surgery, but then that means I will undergo radiation therapy.  I’m really not sure which one I would rather go through at the moment.

So we will continue to wait.  Maybe I will know more once I talk to the radiation oncologist.

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5 thoughts on “Finally Results

  1. Hey love!
    I’m sorry no one has been “around” or able to get back to you with your answers. What kind of jackasses just drop you off some information without explaining WHY the results are as they are. March 1st seems so far away, in reality its not too bad, but still too long for you to wait. I really hope someone calls you back monday morning with some answers! until then… we keep praying!

    Love you lady!

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  2. I’m following along Jenn. You are coming across so strong. I’m rooting for you! (Is that a good thing to say to a coach’s wife?) 😉

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  3. I cannot speak to your specific situation as I am not your physician and do not have all the details, but I might be able to clarify the differences between suspected deleterious and positive deleterious. Mutations/alterations to the BRCA1 or BRCA2 genes have been found to be linked to higher risk for breast and ovarian cancers. Every possible mutation and alteration to those genes is not documented, but all are generally considered to be a cancer risk factor. Since every mutation/alteration is not known those that are not documented are consider to be “possible deleterious”, whereas those that are documented are referred to as “positive deleterious”. The treatment options are the same for both, but the ultimate course of treatment is decided between your physician and yourself. I don’t mean to pry into your personal business, but I felt like I might be able to help at least with some of the terminology.

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      1. I am not sure if mom told you, but I put about 11 medical journal articles on disk for you to look at. They are the most recent studies relating to BRCA1/2 mutations and the success of the most common treatment options. I know it was not solicited, but I still have access to a couple of medical databases from when I got my EMT-I certification and figured I should get some use from them.

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