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Volumn 6, Issue 1, 2013, Pages

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

Author keywords

Dicer; Germ cell tumors; High resolution melt analysis; microRNA; Mutation analysis

Indexed keywords

DEAD BOX PROTEIN; DICER1 PROTEIN, HUMAN; MICRORNA; RIBONUCLEASE III;

EID: 84875530058     PISSN: None     EISSN: 17560500     Source Type: Journal    
DOI: 10.1186/1756-0500-6-127     Document Type: Article
Times cited : (13)

References (23)
  • 2
    • 78649634206 scopus 로고    scopus 로고
    • Germline DICER1 mutations and familial cystic nephroma
    • 10.1136/jmg.2010.081216 21036787
    • Germline DICER1 mutations and familial cystic nephroma. Bahubeshi A, Bal N, Rio Frio T, Hamel N, Pouchet C, Yilmaz A, J Med Genet 2010 47 863 866 10.1136/jmg.2010.081216 21036787
    • (2010) J Med Genet , vol.47 , pp. 863-866
    • Bahubeshi, A.1    Bal, N.2    Rio Frio, T.3    Hamel, N.4    Pouchet, C.5    Yilmaz, A.6
  • 3
    • 78650893211 scopus 로고    scopus 로고
    • DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors
    • 10.1001/jama.2010.1910 21205968
    • DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors. Rio Frio T, Bahubeshi A, Kanellopoulou C, Hamel N, Niedziela M, Sabbaghian N, JAMA 2011 305 68 77 10.1001/jama.2010.1910 21205968
    • (2011) JAMA , vol.305 , pp. 68-77
    • Rio Frio, T.1    Bahubeshi, A.2    Kanellopoulou, C.3    Hamel, N.4    Niedziela, M.5    Sabbaghian, N.6
  • 4
    • 79953699619 scopus 로고    scopus 로고
    • DICER1 syndrome: Clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome
    • 10.1136/jmg.2010.083790 21266384
    • DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. Slade I, Bacchelli C, Davies H, Murray A, Abbaszadeh F, Hanks S, J Med Genet 2011 48 273 278 10.1136/jmg.2010.083790 21266384
    • (2011) J Med Genet , vol.48 , pp. 273-278
    • Slade, I.1    Bacchelli, C.2    Davies, H.3    Murray, A.4    Abbaszadeh, F.5    Hanks, S.6
  • 5
    • 79960459040 scopus 로고    scopus 로고
    • Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: A report from the International Pleuropulmonary Blastoma Registry
    • 10.1016/j.ygyno.2011.03.024 21501861
    • Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry. Schultz KAP, Pacheco MC, Yang J, Williams GM, Messinger Y, Hill DA, Gynecol Oncol 2011 122 246 250 10.1016/j.ygyno.2011.03.024 21501861
    • (2011) Gynecol Oncol , vol.122 , pp. 246-250
    • Schultz, K.A.P.1    Pacheco, M.C.2    Yang, J.3    Williams, G.M.4    Messinger, Y.5    Hill, D.A.6
  • 6
    • 81255136937 scopus 로고    scopus 로고
    • Extending the phenotypes associated with DICER1 mutations
    • 10.1002/humu.21600 21882293
    • Extending the phenotypes associated with DICER1 mutations. Foulkes WD, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G, Hum Mutat 2011 32 1381 1384 10.1002/humu.21600 21882293
    • (2011) Hum Mutat , vol.32 , pp. 1381-1384
    • Foulkes, W.D.1    Bahubeshi, A.2    Hamel, N.3    Pasini, B.4    Asioli, S.5    Baynam, G.6
  • 7
    • 84865017291 scopus 로고    scopus 로고
    • New phenotype in the familial DICER1 tumor syndrome: Pituitary blastoma presenting at age 9 months
    • 10.1210/er.2011-0002
    • New phenotype in the familial DICER1 tumor syndrome: Pituitary blastoma presenting at age 9 months. Wilid-Runge S, Bahubeshi A, Carret A, Crevier L, Robitaille Y, Kovacs K, Endocr Rev 2011 32 1 P777 10.1210/er.2011-0002
    • (2011) Endocr Rev , vol.32
    • Wilid-Runge, S.1    Bahubeshi, A.2    Carret, A.3    Crevier, L.4    Robitaille, Y.5    Kovacs, K.6
  • 8
    • 84863863372 scopus 로고    scopus 로고
    • DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome
    • 10.1002/pbc.24020 22180160
    • DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. Doros L, Yang J, Dehner L, Rossi CT, Skiver K, Jarzembowski JA, Pediatr Blood Cancer 2012 59 558 560 10.1002/pbc.24020 22180160
    • (2012) Pediatr Blood Cancer , vol.59 , pp. 558-560
    • Doros, L.1    Yang, J.2    Dehner, L.3    Rossi, C.T.4    Skiver, K.5    Jarzembowski, J.A.6
  • 9
    • 84864311655 scopus 로고    scopus 로고
    • Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma
    • 10.1136/jmedgenet-2012-100898 22717647
    • Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma. Sabbaghian N, Hamel N, Srivastava A, Albrecht S, Priest JR, Foulkes WD, J Med Genet 2012 49 417 419 10.1136/jmedgenet-2012-100898 22717647
    • (2012) J Med Genet , vol.49 , pp. 417-419
    • Sabbaghian, N.1    Hamel, N.2    Srivastava, A.3    Albrecht, S.4    Priest, J.R.5    Foulkes, W.D.6
  • 10
    • 84862908497 scopus 로고    scopus 로고
    • Recurrent Somatic DICER1Mutations in Nonepithelial Ovarian Cancers
    • 10.1056/NEJMoa1102903 22187960
    • Recurrent Somatic DICER1Mutations in Nonepithelial Ovarian Cancers. Heravi-Moussavi A, Anglesio MS, Cheng S-WG, Senz J, Yang W, Prentice L, N Engl J Med 2012 366 234 242 10.1056/NEJMoa1102903 22187960
    • (2012) N Engl J Med , vol.366 , pp. 234-242
    • Heravi-Moussavi, A.1    Anglesio, M.S.2    Cheng, S.-W.3    Senz, J.4    Yang, W.5    Prentice, L.6
  • 11
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • 10.1038/nmeth0410-248 20354512
    • A method and server for predicting damaging missense mutations. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Nat Methods 2010 7 248 249 10.1038/nmeth0410-248 20354512
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3    Ramensky, V.E.4    Gerasimova, A.5
  • 12
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • 10.1038/nprot.2009.86 19561590
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Kumar P, Henikoff S, Ng PC, Nat Protoc 2009 4 1073 1081 10.1038/nprot.2009.86 19561590
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 13
    • 84861391272 scopus 로고    scopus 로고
    • In vivo structure-function analysis of human Dicer reveals directional processing of precursor miRNAs
    • 10.1261/rna.032680.112 22546613
    • In vivo structure-function analysis of human Dicer reveals directional processing of precursor miRNAs. Gurtan AM, Lu V, Bhutkar A, Sharp PA, RNA 2012 18 1116 1122 10.1261/rna.032680.112 22546613
    • (2012) RNA , vol.18 , pp. 1116-1122
    • Gurtan, A.M.1    Lu, V.2    Bhutkar, A.3    Sharp, P.A.4
  • 14
    • 84869834691 scopus 로고    scopus 로고
    • DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours
    • 10.1186/1756-0500-5-569 23068969
    • DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours. de Boer CM, Eini R, Gillis AM, Stoop H, Looijenga LH, White SJ, BMC Res Notes 2012 5 569 10.1186/1756-0500-5-569 23068969
    • (2012) BMC Res Notes , vol.5 , pp. 569
    • De Boer, C.M.1    Eini, R.2    Gillis, A.M.3    Stoop, H.4    Looijenga, L.H.5    White, S.J.6
  • 15
    • 67649867946 scopus 로고    scopus 로고
    • Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer
    • 10.1038/ng.393 19483682
    • Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. Kanetsky PA, Mitra N, Vardhanabhuti S, Li M, Vaughn DJ, Letrero R, Nat Genet 2009 41 811 815 10.1038/ng.393 19483682
    • (2009) Nat Genet , vol.41 , pp. 811-815
    • Kanetsky, P.A.1    Mitra, N.2    Vardhanabhuti, S.3    Li, M.4    Vaughn, D.J.5    Letrero, R.6
  • 16
    • 79960130481 scopus 로고    scopus 로고
    • A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility
    • 10.1093/hmg/ddr207 21551455
    • A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. Kanetsky PA, Mitra N, Vardhanabhuti S, Vaughn DJ, Li M, Ciosek SL, Hum Mol Genet 2011 20 3109 3117 10.1093/hmg/ddr207 21551455
    • (2011) Hum Mol Genet , vol.20 , pp. 3109-3117
    • Kanetsky, P.A.1    Mitra, N.2    Vardhanabhuti, S.3    Vaughn, D.J.4    Li, M.5    Ciosek, S.L.6
  • 17
    • 0035217998 scopus 로고    scopus 로고
    • Environmental and host factors in testicular germ cell tumors
    • 10.1081/CNV-100107746 11768038
    • Environmental and host factors in testicular germ cell tumors. McGlynn KA, Cancer Invest 2001 19 842 853 10.1081/CNV-100107746 11768038
    • (2001) Cancer Invest , vol.19 , pp. 842-853
    • McGlynn, K.A.1
  • 18
    • 74949105605 scopus 로고    scopus 로고
    • Etiologic factors in testicular germ-cell tumors
    • 10.2217/fon.09.116 19903067
    • Etiologic factors in testicular germ-cell tumors. McGlynn KA, Cook MB, Future Oncol 2009 5 1389 1402 10.2217/fon.09.116 19903067
    • (2009) Future Oncol , vol.5 , pp. 1389-1402
    • McGlynn, K.A.1    Cook, M.B.2
  • 19
    • 77953555452 scopus 로고    scopus 로고
    • Predisposition alleles for Testicular Germ Cell Tumour
    • 10.1016/j.gde.2010.02.006 20303738
    • Predisposition alleles for Testicular Germ Cell Tumour. Rapley EA, Nathanson KL, Curr Opin Genet Dev 2010 20 225 230 10.1016/j.gde.2010.02.006 20303738
    • (2010) Curr Opin Genet Dev , vol.20 , pp. 225-230
    • Rapley, E.A.1    Nathanson, K.L.2
  • 21
  • 22
    • 79960860868 scopus 로고    scopus 로고
    • Genome-wide association studies provide new insights into the genetic basis of testicular germ-cell tumour
    • 10.1111/j.1365-2605.2011.01162.x 21623831
    • Genome-wide association studies provide new insights into the genetic basis of testicular germ-cell tumour. Turnbull C, Rahman N, Int J Androl 2011 34 86 e96 10.1111/j.1365-2605.2011.01162.x 21623831
    • (2011) Int J Androl , vol.34
    • Turnbull, C.1    Rahman, N.2
  • 23
    • 84864944125 scopus 로고    scopus 로고
    • Rare de novo germline copy-number variation in testicular cancer
    • 10.1016/j.ajhg.2012.06.019 22863192
    • Rare de novo germline copy-number variation in testicular cancer. Stadler ZK, Esposito D, Shah S, Vijai J, Yamrom B, Levy D, Am J Hum Genet 2012 91 379 383 10.1016/j.ajhg.2012.06.019 22863192
    • (2012) Am J Hum Genet , vol.91 , pp. 379-383
    • Stadler, Z.K.1    Esposito, D.2    Shah, S.3    Vijai, J.4    Yamrom, B.5    Levy, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.