Article
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2021
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
Abstract excerpt
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 melanoma cohort. Functional effects of duplications in PPP2R3B were investigated using immunohistochemistry,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.