Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours.
BMC Res Notes
; 6: 127, 2013 Apr 01.
Article
en En
| MEDLINE
| ID: mdl-23547758
ABSTRACT
BACKGROUND:
The RNase III enzyme DICER1 plays a central role in maturation of microRNAs. Identification of neoplasia-associated germ-line and somatic mutations in DICER1 indicates that mis-expression of miRNAs in cancer may result from defects in their processing. As part of a recent study of DICER1 RNase III domains in 96 testicular germ cell tumors, a single RNase IIIb domain mutation was identified in a seminoma. To further explore the importance of DICER1 mutations in the etiology of testicular germ cell tumors (TGCT), we studied germ-line DNA samples from 43 probands diagnosed with familial TGCT.FINDINGS:
We carried out High Resolution Melting Curve Analysis of DICER1 exons 2-12, 14-19, 21 and 24-27. All questionable melt curves were subjected to confirmatory Sanger sequencing.Sanger sequencing was used for exons 13, 20, 22 and 23. Intron-exon boundaries were included in all analyses. We identified 12 previously reported single nucleotide polymorphisms and two novel single nucleotide variants. No likely deleterious variants were identified; notably no mutations that were predicted to truncate the protein were identified.CONCLUSIONS:
Taken together with previous studies, the findings reported here suggest a very limited role for either germ-line or somatic DICER1 mutations in the etiology of TGCT.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neoplasias Testiculares
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Mutación de Línea Germinal
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Neoplasias de Células Germinales y Embrionarias
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Ribonucleasa III
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ARN Helicasas DEAD-box
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Humans
/
Male
Idioma:
En
Revista:
BMC Res Notes
Año:
2013
Tipo del documento:
Article
País de afiliación:
Canadá