However, Yan et al. describe three novel mutations in the N-terminal of TERT (c.896 G > A, Glu280Lys; c.1079 C > G, Leu341Val and c.1451 G > C, Val465Leu) in 72 AML which may lead to shortened telomeres and telomerase dysfunction. The gene discussed is TERT; the disease is acute myeloid leukemia.