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Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma

Guenat, David ; Quentin, Samuel ; Rizzari, Carmelo ; Lundin, Catarina LU ; Coliva, Tiziana ; Edery, Patrick ; Fryssira, Helen ; Bermont, Laurent ; Ferrand, Christophe and Soulier, Jean , et al. (2014) In Journal of Hematology & Oncology 7.
Abstract
Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region has not yet been identified as a susceptibility locus in NHL, it harbors a number of genes involved in DNA repair. The high proportion of pediatric NHL reported in WBS is intriguing. Therefore, the role of haploinsufficiency of genes located at 7q11.23 in lymphomagenesis deserves to be investigated.
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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Williams-Beuren syndrome, Non-Hodgkin Lymphoma, 7q11.23, Cancer, predisposition, DNA repair
in
Journal of Hematology & Oncology
volume
7
article number
82
publisher
BioMed Central (BMC)
external identifiers
  • wos:000346312200001
  • scopus:84920774135
  • pmid:25388916
ISSN
1756-8722
DOI
10.1186/s13045-014-0082-4
language
English
LU publication?
yes
id
b532932f-2389-40cd-b980-eb29651952b4 (old id 4960519)
date added to LUP
2016-04-01 13:16:04
date last changed
2025-04-04 14:27:48
@article{b532932f-2389-40cd-b980-eb29651952b4,
  abstract     = {{Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region has not yet been identified as a susceptibility locus in NHL, it harbors a number of genes involved in DNA repair. The high proportion of pediatric NHL reported in WBS is intriguing. Therefore, the role of haploinsufficiency of genes located at 7q11.23 in lymphomagenesis deserves to be investigated.}},
  author       = {{Guenat, David and Quentin, Samuel and Rizzari, Carmelo and Lundin, Catarina and Coliva, Tiziana and Edery, Patrick and Fryssira, Helen and Bermont, Laurent and Ferrand, Christophe and Soulier, Jean and Borg, Christophe and Rohrlich, Pierre-Simon}},
  issn         = {{1756-8722}},
  keywords     = {{Williams-Beuren syndrome; Non-Hodgkin Lymphoma; 7q11.23; Cancer; predisposition; DNA repair}},
  language     = {{eng}},
  publisher    = {{BioMed Central (BMC)}},
  series       = {{Journal of Hematology & Oncology}},
  title        = {{Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma}},
  url          = {{https://lup.lub.lu.se/search/files/3268152/7695417}},
  doi          = {{10.1186/s13045-014-0082-4}},
  volume       = {{7}},
  year         = {{2014}},
}