Article
The clinical and functional effects of TERT variants in myelodysplastic syndrome.
Blood - 9 Sept 2021
Reilly Christopher R, Myllymäki Mikko, Redd Robert, Padmanaban Shilpa, Karunakaran Druha, Tesmer Valerie, Tsai Frederick D, Gibson Christopher J, Rana Huma Q, Zhong Liang, Saber Wael, Spellman Stephen R, Hu Zhen-Huan, Orr Esther H, Chen Maxine M, De Vivo Immaculata, DeAngelo Daniel J, Cutler Corey, Antin Joseph H, Neuberg Donna, Garber Judy E, Nandakumar Jayakrishnan, Agarwal Suneet, Lindsley R Coleman
Abstract excerpt
Germline pathogenic TERT variants are associated with short telomeres and an increased risk of developing myelodysplastic syndrome (MDS) among patients with a telomere biology disorder. We identified TERT rare variants in 41 of 1514 MDS patients (2.7%) without a clinical diagnosis of a telomere biology disorder who underwent allogeneic transplantation. Patients with a TERT rare variant had shorter telomere length...
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