Advanced search
1 file | 459.98 KB

Pinpointing a potential role for CLEC12B in cancer predisposition through familial exome sequencing

Charlotte Derpoorter (UGent) , Karl Vandepoele (UGent) , Araceli Diez Fraile (UGent) , Katrien Vandemeulebroecke (UGent) , Bram De Wilde (UGent) , Franki Speleman (UGent) , Nadine Van Roy (UGent) , Tim Lammens (UGent) and Genevieve Laureys (UGent)
Author
Organization
Abstract
Predisposition to cancer is only partly understood, and thus, the contribution of still undiscovered cancer predisposing variants necessitates further research. In search of such variants, we performed exome sequencing on the germline DNA of a family with two children affected by ganglioneuroma and neuroblastoma. Applying stringent selection criteria, we identified a potential deleterious, missense mutation in CLEC12B, coding for a lectin C-type receptor that is predicted to regulate immune function. Although further screening in a larger population and functional characterization is needed, we propose CLEC12B as a candidate cancer predisposition gene.
Keywords
cancer, CLEC12B, exome sequencing, pediatric, predisposition, IDENTIFICATION, GENE, INSIGHTS, RECEPTOR, PATIENT, RISK

Downloads

  • (...).pdf
    • full text
    • |
    • UGent only
    • |
    • PDF
    • |
    • 459.98 KB

Citation

Please use this url to cite or link to this publication:

Chicago
Derpoorter, Charlotte, Karl Vandepoele, Araceli Diez Fraile, Katrien Vandemeulebroecke, Bram De Wilde, Franki Speleman, Nadine Van Roy, Tim Lammens, and Genevieve Laureys. 2019. “Pinpointing a Potential Role for CLEC12B in Cancer Predisposition Through Familial Exome Sequencing.” Pediatric Blood & Cancer 66 (2).
APA
Derpoorter, C., Vandepoele, K., Diez Fraile, A., Vandemeulebroecke, K., De Wilde, B., Speleman, F., Van Roy, N., et al. (2019). Pinpointing a potential role for CLEC12B in cancer predisposition through familial exome sequencing. PEDIATRIC BLOOD & CANCER, 66(2).
Vancouver
1.
Derpoorter C, Vandepoele K, Diez Fraile A, Vandemeulebroecke K, De Wilde B, Speleman F, et al. Pinpointing a potential role for CLEC12B in cancer predisposition through familial exome sequencing. PEDIATRIC BLOOD & CANCER. 2019;66(2).
MLA
Derpoorter, Charlotte et al. “Pinpointing a Potential Role for CLEC12B in Cancer Predisposition Through Familial Exome Sequencing.” PEDIATRIC BLOOD & CANCER 66.2 (2019): n. pag. Print.
@article{8601595,
  abstract     = {Predisposition to cancer is only partly understood, and thus, the contribution of still undiscovered cancer predisposing variants necessitates further research. In search of such variants, we performed exome sequencing on the germline DNA of a family with two children affected by ganglioneuroma and neuroblastoma. Applying stringent selection criteria, we identified a potential deleterious, missense mutation in CLEC12B, coding for a lectin C-type receptor that is predicted to regulate immune function. Although further screening in a larger population and functional characterization is needed, we propose CLEC12B as a candidate cancer predisposition gene.},
  articleno    = {e27513},
  author       = {Derpoorter, Charlotte and Vandepoele, Karl and Diez Fraile, Araceli and Vandemeulebroecke, Katrien and De Wilde, Bram and Speleman, Franki and Van Roy, Nadine and Lammens, Tim and Laureys, Genevieve},
  issn         = {1545-5009},
  journal      = {PEDIATRIC BLOOD \& CANCER},
  language     = {eng},
  number       = {2},
  pages        = {5},
  title        = {Pinpointing a potential role for CLEC12B in cancer predisposition through familial exome sequencing},
  url          = {http://dx.doi.org/10.1002/pbc.27513},
  volume       = {66},
  year         = {2019},
}

Altmetric
View in Altmetric
Web of Science
Times cited: