Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours
详细信息 查看全文
- 作者：Nelly Sabbaghian (1) (2)
Amin Bahubeshi (1) (2) (8)
Andrew Y Shuen (3)
Peter A Kanetsky (4) (6)
Marc D Tischkowitz (1) (2) (9)
Katherine L Nathanson (5) (6)
William D Foulkes (1) (2) (3) (7) - 关键词：microRNA ; Germ cell tumors ; Dicer ; Mutation analysis ; High ; resolution melt analysis
- 刊名：BMC Research Notes
- 出版年：2013
- 出版时间：December 2013
- 年：2013
- 卷：6
- 期：1
- 全文大小：158KB
- 参考文献：1. Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D: DICER1 mutations in familial pleuropulmonary blastoma. / Science 2009, 325:965. dx.doi.org/10.1126/science.1174334">CrossRef
2. Bahubeshi A, Bal N, Rio Frio T, Hamel N, Pouchet C, Yilmaz A: Germline DICER1 mutations and familial cystic nephroma. / J Med Genet 2010, 47:863-66. dx.doi.org/10.1136/jmg.2010.081216">CrossRef
3. Rio Frio T, Bahubeshi A, Kanellopoulou C, Hamel N, Niedziela M, Sabbaghian N: DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors. / JAMA 2011, 305:68-7. dx.doi.org/10.1001/jama.2010.1910">CrossRef
4. Slade I, Bacchelli C, Davies H, Murray A, Abbaszadeh F, Hanks S: DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. / J Med Genet 2011, 48:273-78. dx.doi.org/10.1136/jmg.2010.083790">CrossRef
5. Schultz KAP, Pacheco MC, Yang J, Williams GM, Messinger Y, Hill DA: Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry. / Gynecol Oncol 2011, 122:246-50. dx.doi.org/10.1016/j.ygyno.2011.03.024">CrossRef
6. Foulkes WD, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G: Extending the phenotypes associated with DICER1 mutations. / Hum Mutat 2011, 32:1381-384. dx.doi.org/10.1002/humu.21600">CrossRef
7. Wilid-Runge S, Bahubeshi A, Carret A, Crevier L, Robitaille Y, Kovacs K: New phenotype in the familial DICER1 tumor syndrome: Pituitary blastoma presenting at age 9?months. / Endocr Rev 2011, 32:P1-P777. dx.doi.org/10.1210/er.2011-0002">CrossRef
8. Doros L, Yang J, Dehner L, Rossi CT, Skiver K, Jarzembowski JA: DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. / Pediatr Blood Cancer 2012, 59:558-60. dx.doi.org/10.1002/pbc.24020">CrossRef
9. Sabbaghian N, Hamel N, Srivastava A, Albrecht S, Priest JR, Foulkes WD: Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma. / J Med Genet 2012, 49:417-19. dx.doi.org/10.1136/jmedgenet-2012-100898">CrossRef
10. Heravi-Moussavi A, Anglesio MS, Cheng S-WG, Senz J, Yang W, Prentice L: Recurrent Somatic DICER1Mutations in Nonepithelial Ovarian Cancers. / N Engl J Med 2012, 366:234-42. dx.doi.org/10.1056/NEJMoa1102903">CrossRef
11. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A: A method and server for predicting damaging missense mutations. / Nat Methods 2010, 7:248-49. dx.doi.org/10.1038/nmeth0410-248">CrossRef
12. Kumar P, Henikoff S, Ng PC: Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. / Nat Protoc 2009, 4:1073-081. dx.doi.org/10.1038/nprot.2009.86">CrossRef
13. Gurtan AM, Lu V, Bhutkar A, Sharp PA: In vivo structure-function analysis of human Dicer reveals directional processing of precursor miRNAs. / RNA 2012, 18:1116-122. dx.doi.org/10.1261/rna.032680.112">CrossRef
14. de Boer CM, Eini R, Gillis AM, Stoop H, Looijenga LH, White SJ: DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours. / BMC Res Notes 2012, 5:569. dx.doi.org/10.1186/1756-0500-5-569">CrossRef
15. Kanetsky PA, Mitra N, Vardhanabhuti S, Li M, Vaughn DJ, Letrero R: Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. / Nat Genet 2009, 41:811-15. dx.doi.org/10.1038/ng.393">CrossRef
16. Kanetsky PA, Mitra N, Vardhanabhuti S, Vaughn DJ, Li M, Ciosek SL: A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. / Hum Mol Genet 2011, 20:3109-117. dx.doi.org/10.1093/hmg/ddr207">CrossRef
17. McGlynn KA: Environmental and host factors in testicular germ cell tumors. / Cancer Invest 2001, 19:842-53. dx.doi.org/10.1081/CNV-100107746">CrossRef
18. McGlynn KA, Cook MB: Etiologic factors in testicular germ-cell tumors. / Future Oncol 2009, 5:1389-402. dx.doi.org/10.2217/fon.09.116">CrossRef
19. Rapley EA, Nathanson KL: Predisposition alleles for Testicular Germ Cell Tumour. / Curr Opin Genet Dev 2010, 20:225-30. dx.doi.org/10.1016/j.gde.2010.02.006">CrossRef
20. Crockford GP, Linger R, Hockley S, Dudakia D, Johnson L, Huddart R: Genome-wide linkage screen for testicular germ cell tumour susceptibility loci. / Hum Mol Genet 2006, 15:443-51. dx.doi.org/10.1093/hmg/ddi459">CrossRef
21. Nathanson KL, Kanetsky PA, Hawes R, Vaughn DJ, Letrero R, Tucker K: The Y deletion gr/gr and susceptibility to testicular germ cell tumor. / Am J Hum Genet 2005, 77:1034-043. dx.doi.org/10.1086/498455">CrossRef
22. Turnbull C, Rahman N: Genome-wide association studies provide new insights into the genetic basis of testicular germ-cell tumour. / Int J Androl 2011, 34:e86-e96. dx.doi.org/10.1111/j.1365-2605.2011.01162.x">CrossRef
23. Stadler ZK, Esposito D, Shah S, Vijai J, Yamrom B, Levy D: Rare de novo germline copy-number variation in testicular cancer. / Am J Hum Genet 2012, 91:379-83. dx.doi.org/10.1016/j.ajhg.2012.06.019">CrossRef - 作者单位：Nelly Sabbaghian (1) (2)
Amin Bahubeshi (1) (2) (8)
Andrew Y Shuen (3)
Peter A Kanetsky (4) (6)
Marc D Tischkowitz (1) (2) (9)
Katherine L Nathanson (5) (6)
William D Foulkes (1) (2) (3) (7)
1. Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, QC, Canada
2. Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, QC, Canada
8. Faculty of Medicine, University of Toronto, Toronto, ON, Canada
3. Department of Human Genetics, McGill University, Montreal, QC, Canada
4. Department of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
6. Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
9. Department of Medical Genetics, University of Cambridge, Addenbrooke’s Hospital, Level 6, Addenbrooke’s Treatment Centre Box 134, Cambridge, CB2 0QQ, UK
5. Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
7. Research Institute, McGill University Health Centre, Montreal, QC, Canada
文摘
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 2-2, 14-9, 21 and 24-7. 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.