期刊
PEDIATRIC BLOOD & CANCER
卷 66, 期 2, 页码 -出版社
WILEY
DOI: 10.1002/pbc.27513
关键词
cancer; CLEC12B; exome sequencing; pediatric; predisposition
资金
- vzw Kinderkanker-fonds, a nonprofit childhood cancer foundation
- Foundation Against Cancer [2016-126]
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.
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