Recurrent Germline Variant in
RAD21
acute lymphoblastic leukemia
cohesin complex
germline cancer predisposition
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:
05 May 2022
05 May 2022
Historique:
received:
12
04
2022
accepted:
02
05
2022
entrez:
14
5
2022
pubmed:
15
5
2022
medline:
18
5
2022
Statut:
epublish
Résumé
Somatic loss of function mutations in cohesin genes are frequently associated with various cancer types, while cohesin disruption in the germline causes cohesinopathies such as Cornelia-de-Lange syndrome (CdLS). Here, we present the discovery of a recurrent heterozygous
Identifiants
pubmed: 35563565
pii: ijms23095174
doi: 10.3390/ijms23095174
pmc: PMC9106003
pii:
doi:
Substances chimiques
Cell Cycle Proteins
0
DNA-Binding Proteins
0
RAD21 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : European Research Council (ERC)
ID : Stg 85222 "PreventALL"
Organisme : ERA Per Med
ID : JTC 2018 "GEPARD"
Organisme : German Cancer Aid
ID : 70114539
Organisme : Italian Association for Cancer Research
ID : IG2018 n.21999
Organisme : Deutsche Forschungsgemeinschaft
ID : JE150/31-1
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