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Genetic Testing

Forums Cutaneous Melanoma Community Genetic Testing

  • Post
    almostalice
    Participant
      I re-read my medical notes from decade ago Meladrama and was reminded that I turned down genetic risk testing even with 6mm nodular ulcerated.

      The onc.consultant was very honest in saying “hey you’ve had three primaries, there’s your answer”. The question was really did I want to undergo genetic testing for the benefit of other people.

      Did anyone else get genetically tested on CDKN2A or BRAF aside from involvement with medication?

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        Bubbles
        Participant

          Lots has changed in melanoma over the past five years and certainly in the past 10. BRAF testing is now standard of care for lesions of any consequential size.  Additionally, many "tests" are currently being studied in melanoma patients and each day brings them closer to being validated and available, thanks to a whole lot of ratties.  These may prove to be valuable in determining not only things like BRAF status and tumor burden via assay of the blood for bits of DNA..but for indicating more effective treatment options and presence of disease or progression.  Here is a report on just a few if you are interested: 

          http://chaoticallypreciselifeloveandmelanoma.blogspot.com/2018/04/simple-blood-tests-that-tells-us-where.html  

          Genetic testing of tumor itself, beyond BRAF is often done in a couple of circumstances:  When a patient has failed usually effective melanoma treatment options or when presentation is more in line with a known genetic mutation (multiple family members with melanoma, repeated primary lesions, the presence of additional cancers, etc).  We have several on this forum, who progressed on melanoma drugs…but then with genetic testing was able to find effective therapy.  For instance, on poster's husband turned out to have the HER-2 mutation, more common in breast cancer, but once treated with drugs effective for that, has done very well.

          Additionally, NRAS, CKIT, and many other mutations are frequently checked in melanoma.  Again, what is done is usually determined by patient's request, whether or not the MD is at the top of his/her game (another reason it is important to see a melanoma specialist), how state-of-the-art the pathologist and lab used are, and patient's presentation.

          This chart demonstrates the many molecular presentations of melanoma (and we are still learning!):

          http://chaoticallypreciselifeloveandmelanoma.blogspot.com/2015/04/melanoma-pathwaysa-melanoma-molecular.html  

          Not sure if all this really answers your question, but hope it helps and I wish you well.  Celeste

            almostalice
            Participant
              As an update I did take the test and came up positive for CDKN2A.
            ed williams
            Participant

              Hi Almostalice, just to add to what Celeste has already given you is a study that Dr. Omid Hamid was promoting on a recent video called Tapur. Here are two links that explains it way better than I could.https://www.tapur.org/patients      https://www.tapur.org/news

                ed williams
                Participant

                  sorry about the first link!!! Try it again.       https://www.tapur.org/patients

                  almostalice
                  Participant
                    Awesome thank you for the insights. Yeah a lot certainly has changed. Sentinal Node Biospy was only available toe via a clinical trial at the time and I was refused entry based on time and already having had the WLE.

                    It’s amazing and awesome how far research has progressed.

                    CindyJ
                    Participant

                      This is the trial my mother is in. Great results so far! 

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