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    • POT1 loss-of-function variants predispose to familial melanoma 

      Robles-Espinoza, Carla Daniela; Harland, Mark; Ramsay, Andrew J; Aoude, Lauren G; Quesada, Víctor; Ding, Zhizhao; Pooley, Karen Anne et al. (NPG, 2014-03-30)
      We identify families in which early onset multiple primary melanoma co-segregates with inactivating mutations in the protection of telomeres 1 (POT1) gene. We show that missense mutations of POT1 in three families alter ...