MRF-Logo2019-Horizontal-RGB
Need assistance deciphering genetic testing
REGISTER
The information on this site is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment. Content within the patient forum is user-generated and has not been reviewed by medical professionals. Other sections of the Melanoma Research Foundation website include information that has been reviewed by medical professionals as appropriate. All medical decisions should be made in consultation with your doctor or other qualified medical professional.

Need assistance deciphering genetic testing

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

  • Post
    • 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.

    Viewing 0 reply threads
    • Replies
        • 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

          Viewing 0 reply threads

          Tagged: 

          • You must be logged in to reply to this topic.
          About the MRF Patient Forum

          The MRF Patient Forum is the oldest and largest online community of people affected by melanoma. It is designed to provide peer support and information to caregivers, patients, family and friends. There is no better place to discuss different parts of your journey with this cancer and find the friends and support resources to make that journey more bearable.

          The information on the forum is open and accessible to everyone. To add a new topic or to post a reply, you must be a registered user. Please note that you will be able to post both topics and replies anonymously even though you are logged in. All posts must abide by MRF posting policies.

          Popular Topics