Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumoursReport as inadecuate

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BMC Research Notes

, 6:127

First Online: 01 April 2013Received: 29 November 2012Accepted: 26 March 2013DOI: 10.1186-1756-0500-6-127

Cite this article as: Sabbaghian, N., Bahubeshi, A., Shuen, A.Y. et al. BMC Res Notes 2013 6: 127. doi:10.1186-1756-0500-6-127


BackgroundThe 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.

FindingsWe 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.

ConclusionsTaken 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.

KeywordsmicroRNA Germ cell tumors Dicer Mutation analysis High-resolution melt analysis AbbreviationsCNVsCopy number variants

PPBPleuropulmonary blastoma

SLCTSertoli-Leydig cell tumor

TGCTTesticular germ cell tumor.

Nelly Sabbaghian, Amin Bahubeshi contributed equally to this work.

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Author: Nelly Sabbaghian - Amin Bahubeshi - Andrew Y Shuen - Peter A Kanetsky - Marc D Tischkowitz - Katherine L Nathanson - Wil


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