Article
Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages.
Blood - 15 Dec 2022
Feurstein Simone, Trottier Amy M, Estrada-Merly Noel, Pozsgai Matthew, McNeely Kelsey, Drazer Michael W, Ruhle Brian, Sadera Katharine, Koppayi Ashwin L, Scott Bart L, Oran Betul, Nishihori Taiga, Agrawal Vaibhav, Saad Ayman, Lindsley R Coleman, Nakamura Ryotaro, Kim Soyoung, Hu Zhenhuan, Sobecks Ronald, Spellman Stephen, Saber Wael, Godley Lucy A
Abstract excerpt
The frequency of pathogenic/likely pathogenic (P/LP) germ line variants in patients with myelodysplastic syndrome (MDS) diagnosed at age 40 years or less is 15% to 20%. However, there are no comprehensive studies assessing the frequency of such variants across the age spectrum. We performed augmented whole-exome sequencing of peripheral blood samples from 404 patients with MDS and their related donors before...
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