Pinpointing a potential role for CLEC12B in cancer predisposition through familial exome sequencing. Issue 2 (23rd October 2018)

• Record Type: Journal Article
• Authors: Derpoorter, Charlotte; Vandepoele, Karl; Diez‐Fraile, Araceli; Vandemeulebroecke, Katrien; De Wilde, Bram; Speleman, Frank; Van Roy, Nadine; Lammens, Tim; Laureys, Geneviève
• Is Part Of: Pediatric blood & cancer. Volume 66:Issue 2(2019)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2018-10-23
• Subjects: cancer -- CLEC12B -- exome sequencing -- pediatric -- predisposition; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.27513
• Languages: English
• ISSNs: 1545-5009

Abstract

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.