Pinpointing a potential role for CLEC12B in cancer predisposition through familial exome sequencing.
Pediatr Blood Cancer
; 66(2): e27513, 2019 02.
Article
em En
| MEDLINE
| ID: mdl-30350915
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Receptores Mitogênicos
/
Predisposição Genética para Doença
/
Lectinas Tipo C
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Ganglioneuroma
/
Neuroblastoma
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Pediatr Blood Cancer
Assunto da revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Bélgica