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Need assistance deciphering genetic testing
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Need assistance deciphering genetic testing

› Forums › Cutaneous Melanoma Community › Need assistance deciphering genetic testing

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    • September 26, 2017 at 3:07 am
    jc2dad
    Participant

      Got my genetic testing complete results back today.  I have no NRAS, CKIT, or BRAF mutations but do have mutations in BIRC2, BIRC3, MDM2, and PIK3CA.  I did a little research on these genes and mutations but really can't decipher what it all means as it relates to treatment.  I have found that having the PIK3CA in subcutaneous melanoma, for a white male without NRAS or BRAF mutation is extremely, extremely rare.  Does anyone have any insight?  Thanks in advance.

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        • September 26, 2017 at 5:37 am
        Bubbles
        Participant

          If you look at this post:  http://chaoticallypreciselifeloveandmelanoma.blogspot.com/2017/08/melanoma-intel-primer-for-current.html  

          Go to the section on targeted therapy. There you will find a diagram describing melanoma pathways.  As I understand it, PIK3Ca is related to the PI3K pathway (depicted in green) on the right.  While BIRC2/3 are derived from p53, as is MDM2.  Targted therapy is currently FDA approved only for BRAF positive patients, but many studies are ongoing, working to attain viable targeted therapies for other pathways.  The link below the graph notes drugs being examined for both the KIT and PI3K mutations.  Hope this helps.  celeste

            • September 28, 2017 at 5:53 am
            jc2dad
            Participant

              Thanks Celeste.  I've been studying like a fool for the last few days.  Seems this mutation without NRAS is very rare bird.  

               

              • September 28, 2017 at 12:43 pm
              Bubbles
              Participant

                It's all pretty crazy.  Hang in there!!  Celeste

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