Germline POT1 Deregulation Can Predispose to Myeloid Malignancies in Childhood

Germline POT1 Deregulation Can Predispose to Myeloid Malignancies in Childhood

While the shelterin complex guards and coordinates the mechanism of telomere regulation, deregulation of this process is tightly linked to malignant transformation and cancer. Here, we present the novel finding of a germline stop-gain variant (p.Q199*) in the shelterin complex gene <i>POT1<...

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Autores principales: Pia Michler, Anne Schedel, Martha Witschas, Ulrike Anne Friedrich, Rabea Wagener, Juha Mehtonen, Triantafyllia Brozou, Maria Menzel, Carolin Walter, Dalileh Nabi, Glen Pearce, Miriam Erlacher, Gudrun Göhring, Martin Dugas, Merja Heinäniemi, Arndt Borkhardt, Friedrich Stölzel, Julia Hauer, Franziska Auer
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
acute myeloid leukemia
pediatric
trio sequencing
germline cancer predisposition
POT1
shelterin complex
Biology (General)
QH301-705.5
Chemistry
QD1-999
Acceso en línea:https://doaj.org/article/ee2aebca508c48acb2ba60d602a81910
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https://doaj.org/article/ee2aebca508c48acb2ba60d602a81910

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