Brca Analysis Report

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Leslie04wink
Leslie04wink Member Posts: 2
edited June 2015 in Genetic Testing

i had a brca test done March of 2014 and result were positive for brca 2. My doctor suddenly stopped practicing and now I'm stuck as what to do. All other doctors are months out being able to get me in to dicuss this. Can I make my own appointment with a genetic counselor? Also does this result mean anything significant?

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  • Moderators
    Moderators Member Posts: 25,912
    edited June 2015

    Hi Leslie-

    We want to welcome you to our community here at BCO. We hope you find this to be an informative and supportive place!

    If your insurance allows you to see specialist without a referral, and if you can get in to see a genetic counselor without a referral, there's no reason you should need to wait to see one. Carriers of BRCA 1 and 2 mutations have a significantly higher risk of breast cancer, so there are definitely some scenarios and possible courses of action that you need to discuss with a doctor. You can read more about BRCA testing and what to expect if you're a carrier here: http://www.breastcancer.org/symptoms/testing/genet....

    We would suggest contacting your insurance company to find out if you can see someone without a referral or prior authorization, and if so, ask for a list of genetic counselors that are covered. What prompted you to be tested in the first place? If your insurance approved and paid for the test, you should have no issues getting a list of doctors to see now.

    Please keep us updated!

    The Mods

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  • inks
    inks Member Posts: 746
    edited June 2015

    So sorry you tested positive for the mutation. You should have met with genetic counselor BEFORE the test - that's how it's normally done. I would discuss the results with your primary care physician or OBGYN. Since your test was done more than a year ago I am sure you can wait a couple of more months to get an appointment with a different doctor.

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  • Leslie04wink
    Leslie04wink Member Posts: 2
    edited June 2015

    Thanks for your reply :) I had actually went to my obgyn for a lump I had found (turned out to be okay). It was thatvappt she decided to do the brca test. Then she suggested a genetic counselor and was supposed to schedule my appt. Yes I will be calling today to seek a new doctor and take my results so they can review them. Exact mutation reads....BRCA 2 P3039R (9344C<G). It all looks like foreign language to me

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  • lekker
    lekker Member Posts: 594
    edited June 2015

    Leslie: unfortunately your experience illustrates why OB/GYN's, Oncologists, Primary Care docs and other non-genetic specialists shouldn't order these tests - at least not without ensuring genetic counseling first. It's understandable that you're confused. Please ask for a referral to a Licensed Genetic Counselor so the results can be explained to you. Just because they found a mutation, doesn't necessarily mean that you have a higher risk of developing cancer. Some mutations are known to be harmful (deleterious), some are known to be benign and there are many mutations that haven't been categorized yet (UV - unknown variant or VUS - variant of unknown significance).

    Is it possible that you typed the description of the mutation incorrectly? I tried looking for it and only found 9344C>G, not 9344C<G. If you do in fact have the 9344C>G variant, it is currently unknown if it is a harmful mutation or not and a LCG can explain what that means to you personally. Please share with us what you find out. This is a relatively new area of study and new information is discovered every year.

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