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Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

Author

Listed:
  • Catherine D. Van Raamsdonk

    (University of British Columbia, Vancouver, British Columbia V6T1Z3, Canada)

  • Vladimir Bezrookove

    (Department of Dermatology and Comprehensive Cancer Center,)

  • Gary Green

    (Department of Dermatology and Comprehensive Cancer Center,)

  • Jürgen Bauer

    (Department of Dermatology and Comprehensive Cancer Center,
    University of Tübingen)

  • Lona Gaugler

    (Department of Dermatology and Comprehensive Cancer Center,)

  • Joan M. O’Brien

    (University of California, San Francisco, California 94143, USA)

  • Elizabeth M. Simpson

    (University of British Columbia, Vancouver, British Columbia V6T1Z3, Canada)

  • Gregory S. Barsh

    (Stanford University, Stanford, California 94305, USA.)

  • Boris C. Bastian

    (Department of Dermatology and Comprehensive Cancer Center,)

Abstract

Mutated in melanomas Mutations in BRAF and NRAS that lead to constitutive activation of MAPK signalling have been found at high frequencies in many melanomas, both benign and malignant. However, they have not been found in uveal melanomas (arising from in the cells that give colour to the eye) or in blue naevi melanomas (a type of benign blue–black mole). Now a genetic screen of biopsy samples shows that these melanoma subtypes instead show frequent activating mutations in the G protein α-subunit GNAQ, also leading to the activation of the MAPK pathway. This identifies signalling components downstream of GNAQ as potential therapeutic targets.

Suggested Citation

  • Catherine D. Van Raamsdonk & Vladimir Bezrookove & Gary Green & Jürgen Bauer & Lona Gaugler & Joan M. O’Brien & Elizabeth M. Simpson & Gregory S. Barsh & Boris C. Bastian, 2009. "Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi," Nature, Nature, vol. 457(7229), pages 599-602, January.
    • Handle: RePEc:nat:nature:v:457:y:2009:i:7229:d:10.1038_nature07586
    DOI: 10.1038/nature07586
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    Cited by:

    1. Inês A. M. Barbosa & Rajaraman Gopalakrishnan & Samuele Mercan & Thanos P. Mourikis & Typhaine Martin & Simon Wengert & Caibin Sheng & Fei Ji & Rui Lopes & Judith Knehr & Marc Altorfer & Alicia Lindem, 2023. "Cancer lineage-specific regulation of YAP responsive elements revealed through large-scale functional epigenomic screens," Nature Communications, Nature, vol. 14(1), pages 1-15, December.
    2. Yong-Seok Kim & Jun-Hee Yeon & Woori Ko & Byung-Chang Suh, 2023. "Two-step structural changes in M3 muscarinic receptor activation rely on the coupled Gq protein cycle," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
    3. Sandra Schrenk & Lindsay J. Bischoff & Jillian Goines & Yuqi Cai & Shruti Vemaraju & Yoshinobu Odaka & Samantha R. Good & Joseph S. Palumbo & Sara Szabo & Damien Reynaud & Catherine D. Raamsdonk & Ric, 2023. "MEK inhibition reduced vascular tumor growth and coagulopathy in a mouse model with hyperactive GNAQ," Nature Communications, Nature, vol. 14(1), pages 1-20, December.

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