Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Satyamaanasa PolubothuDavide ZecchinLara Al-OlabiDaniël A LionaronsMark HarlandStuart HorswellAnna C ThomasLilian HuntNathan WlodarchakPaula AguileraSarah BrandDale BryantCristina CarreraHui ChenGreg ElgarCatherine A HarwoodMichael HowellLionel LarueSam LoughlinJeff MacDonaldJosep MalvehySara Martin BarberanVanessa Martins da SilvaMiriam MolinaDeborah MorroghDale MouldingJérémie NsengimanaAlan PittmanJoan-Anton Puig-ButilléKiran ParmarNeil J SebireStephen SchererPaulina StadnikPhilip StanierGemma TellRegula WaelchliMehdi ZarreiSusana PuigVéronique BatailleYongna XingEugene HealyGudrun E MooreWei-Li DiJulia Newton-BishopJulian DownwardVeronica A KinslerPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
This work confirms the power of a rare disease approach, identifying a previously unreported copy-number change predisposing to melanocytic neoplasia, and discovers C21orf91 as a potentially targetable hub in the control of phenotype switching.