Germline POT1 Deregulation Can Predispose to Myeloid Malignancies in Childhood.
Adult
DNA Damage
/ genetics
Genetic Predisposition to Disease
/ genetics
Germ Cells
Germ-Line Mutation
/ genetics
HEK293 Cells
Humans
Leukemia, Myeloid, Acute
/ genetics
Myeloid Cells
Myeloproliferative Disorders
/ genetics
RNA, Messenger
/ genetics
Shelterin Complex
/ genetics
Telomere
/ genetics
Telomere-Binding Proteins
/ genetics
Young Adult
POT1
acute myeloid leukemia
germline cancer predisposition
pediatric
shelterin complex
trio sequencing
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
26 Oct 2021
26 Oct 2021
Historique:
received:
01
10
2021
revised:
21
10
2021
accepted:
23
10
2021
entrez:
13
11
2021
pubmed:
14
11
2021
medline:
16
12
2021
Statut:
epublish
Résumé
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
Identifiants
pubmed: 34769003
pii: ijms222111572
doi: 10.3390/ijms222111572
pmc: PMC8583981
pii:
doi:
Substances chimiques
POT1 protein, human
0
RNA, Messenger
0
Shelterin Complex
0
Telomere-Binding Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : European Research Council
ID : Stg 85222
Pays : International
Organisme : ERA PerMed
ID : GEPARD
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