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Mutation gene GNAQ????

Forums Ocular Melanoma Community Mutation gene GNAQ????

  • Post
    Linda/Kentucky
    Participant

    My husband had his genetic profiling done about 3 weeks ago and we finally received the results.  He seems to carry a mutation gene of GNAQ.   This mutation is generally seen in uveal melanoma??? and we are not positive with his primary so could be.  Anybody have any ideas about this?   I am  not familiar with this at all I have looked up some info.

    My husband had his genetic profiling done about 3 weeks ago and we finally received the results.  He seems to carry a mutation gene of GNAQ.   This mutation is generally seen in uveal melanoma??? and we are not positive with his primary so could be.  Anybody have any ideas about this?   I am  not familiar with this at all I have looked up some info. but not alot to find.  We will have more answers Monday when we go for a follow-up.  I pray there is something we can try because we already tried high dose IL-2 no response, finished the Ipi trial in Oct. with progression at 12 wks. and final scans showed major progression.  Basically we were told Taxol/Carbo chemo but not sure it this is a choice for us. 

     

     

    Linda/Kentucky

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      bcl
      Participant

      Hi Linda, I don't know enough about this but am in the habit of saving info on various gene mutations and this is what I have on GNAQ.  It appears the mutation is not only common in uveal melanoma but even more common in blue naevi mel. Perhaps write to Tim if he does not see this, (young Jenna had the same mutation). Hope this helps, take care, linda.

       

       

       

      Re: Is ocular melanoma considered mucosal?     by Tim–MRF at 02:29 on Fri, Apr 09, 2010
      Ocular melanoma is rare and has been almost completely non-responsive to therapies. In the past two years, however, a genetic mutation has been closely associated with ocular melanoma. A GNAQ mutation occurs in about half of all ocular melanoma. There is at least one clinical trial happening now of a MEK inhibitor targeting ocular melanoma wiht GNAQ mutation. This is a promising development.
      Tim–MRF
      Re: Is ocular melanoma considered mucosal?     by JerryfromFauq at 12:26 on Sat, Apr 10, 2010
      Particular drugs that are being looked at to target Ocular mel are AZD6240 and GSK 1120212.

       

      Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

      Catherine D. Van Raamsdonk1, Vladimir Bezrookove2, Gary Green2, Jürgen Bauer2,4, Lona Gaugler2, Joan M. O'Brien3, Elizabeth M. Simpson5, Gregory S. Barsh6 & Boris C. Bastian2

      1. Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T1Z3, Canada
      2. Department of Dermatology and Comprehensive Cancer Center,
      3. Department of Ophthalmology and Comprehensive Cancer Center, University of California, San Francisco, California 94143, USA
      4. Department of Dermatology, University of Tübingen, Tübingen D-72076, Germany
      5. Centre for Molecular Medicine and Therapeutics and Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T1Z3, Canada
      6. Department of Genetics, Stanford University, Stanford, California 94305, USA.

      Correspondence to: Boris C. Bastian2 Correspondence and requests for materials should be addressed to B.C.B. (Email: [email protected]).

       

      Top of page

      Abstract

      BRAF and NRAS are common targets for somatic mutations in benign and malignant neoplasms that arise from melanocytes situated in epithelial structures, and lead to constitutive activation of the mitogen-activated protein (MAP) kinase pathway1, 2. However, BRAF and NRAS mutations are absent in a number of other melanocytic neoplasms in which the equivalent oncogenic events are currently unknown3. Here we report frequent somatic mutations in the heterotrimeric G protein alpha-subunit, GNAQ, in blue naevi (83%) and ocular melanoma of the uvea (46%). The mutations occur exclusively in codon 209 in the Ras-like domain and result in constitutive activation, turning GNAQ into a dominant acting oncogene. Our results demonstrate an alternative route to MAP kinase activation in melanocytic neoplasia, providing new opportunities for therapeutic intervention.

      To read this story in full you will need to login or make a payment (see right).

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      bcl
      Participant

      Hi Linda, I don't know enough about this but am in the habit of saving info on various gene mutations and this is what I have on GNAQ.  It appears the mutation is not only common in uveal melanoma but even more common in blue naevi mel. Perhaps write to Tim if he does not see this, (young Jenna had the same mutation). Hope this helps, take care, linda.

       

       

       

      Re: Is ocular melanoma considered mucosal?     by Tim–MRF at 02:29 on Fri, Apr 09, 2010
      Ocular melanoma is rare and has been almost completely non-responsive to therapies. In the past two years, however, a genetic mutation has been closely associated with ocular melanoma. A GNAQ mutation occurs in about half of all ocular melanoma. There is at least one clinical trial happening now of a MEK inhibitor targeting ocular melanoma wiht GNAQ mutation. This is a promising development.
      Tim–MRF
      Re: Is ocular melanoma considered mucosal?     by JerryfromFauq at 12:26 on Sat, Apr 10, 2010
      Particular drugs that are being looked at to target Ocular mel are AZD6240 and GSK 1120212.

       

      Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

      Catherine D. Van Raamsdonk1, Vladimir Bezrookove2, Gary Green2, Jürgen Bauer2,4, Lona Gaugler2, Joan M. O'Brien3, Elizabeth M. Simpson5, Gregory S. Barsh6 & Boris C. Bastian2

      1. Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T1Z3, Canada
      2. Department of Dermatology and Comprehensive Cancer Center,
      3. Department of Ophthalmology and Comprehensive Cancer Center, University of California, San Francisco, California 94143, USA
      4. Department of Dermatology, University of Tübingen, Tübingen D-72076, Germany
      5. Centre for Molecular Medicine and Therapeutics and Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T1Z3, Canada
      6. Department of Genetics, Stanford University, Stanford, California 94305, USA.

      Correspondence to: Boris C. Bastian2 Correspondence and requests for materials should be addressed to B.C.B. (Email: [email protected]).

       

      Top of page

      Abstract

      BRAF and NRAS are common targets for somatic mutations in benign and malignant neoplasms that arise from melanocytes situated in epithelial structures, and lead to constitutive activation of the mitogen-activated protein (MAP) kinase pathway1, 2. However, BRAF and NRAS mutations are absent in a number of other melanocytic neoplasms in which the equivalent oncogenic events are currently unknown3. Here we report frequent somatic mutations in the heterotrimeric G protein alpha-subunit, GNAQ, in blue naevi (83%) and ocular melanoma of the uvea (46%). The mutations occur exclusively in codon 209 in the Ras-like domain and result in constitutive activation, turning GNAQ into a dominant acting oncogene. Our results demonstrate an alternative route to MAP kinase activation in melanocytic neoplasia, providing new opportunities for therapeutic intervention.

      To read this story in full you will need to login or make a payment (see right).

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