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

  title={Pinpointing a potential role for CLEC12B in cancer predisposition through familial exome sequencing},
  author={Charlotte Derpoorter and Karl Vandepoele and Araceli Diez-Fraile and Katrien Vandemeulebroecke and Bram de Wilde and Frank Speleman and Nadine Van Roy and Tim Lammens and Genevi{\`e}ve Laureys},
  journal={Pediatric Blood \& Cancer},
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… 
2 Citations
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Realizing the promise of cancer predisposition genes
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Genetic predisposition to cancer — insights from population genetics
  • S. Frank
  • Biology
    Nature Reviews Genetics
  • 2004
Recent genetic studies and quantitative population-genetic analyses provide a framework for understanding the frequency of inherited mutations and the consequences of these mutations for increased predisposition to cancer.