Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype

PURPOSE: Much of the heredity of melanoma remains unexplained. We sought predisposing germline copy-number variants using a rare disease approach. METHODS: Whole-genome copy-number findings in patients with melanoma predisposition syndrome congenital melanocytic nevus were extrapolated to a sporadic...

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Detalles Bibliográficos
Autores principales: Polubothu, Satyamaanasa, Zecchin, Davide, Al-Olabi, Lara, Lionarons, Daniël A., Harland, Mark, Horswell, Stuart, Thomas, Anna C., Hunt, Lilian, Wlodarchak, Nathan, Aguilera, Paula, Brand, Sarah, Bryant, Dale, Carrera, Cristina, Chen, Hui, Elgar, Greg, Harwood, Catherine A., Howell, Michael, Larue, Lionel, Loughlin, Sam, MacDonald, Jeff, Malvehy, Josep, Barberan, Sara Martin, da Silva, Vanessa Martins, Molina, Miriam, Morrogh, Deborah, Moulding, Dale, Nsengimana, Jérémie, Pittman, Alan, Puig-Butillé, Joan-Anton, Parmar, Kiran, Sebire, Neil J., Scherer, Stephen, Stadnik, Paulina, Stanier, Philip, Tell, Gemma, Waelchli, Regula, Zarrei, Mehdi, Puig, Susana, Bataille, Véronique, Xing, Yongna, Healy, Eugene, Moore, Gudrun E., Di, Wei-Li, Newton-Bishop, Julia, Downward, Julian, Kinsler, Veronica A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460442/
https://www.ncbi.nlm.nih.gov/pubmed/34145395
http://dx.doi.org/10.1038/s41436-021-01204-y

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