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Items: 1 to 20 of 156

1.

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

Sabbaghian N, Bahubeshi A, Shuen AY, Kanetsky PA, Tischkowitz MD, Nathanson KL, Foulkes WD.

BMC Res Notes. 2013 Apr 1;6:127. doi: 10.1186/1756-0500-6-127.

2.

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 Oct 15;5:569. doi: 10.1186/1756-0500-5-569.

3.

Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers.

Heravi-Moussavi A, Anglesio MS, Cheng SW, Senz J, Yang W, Prentice L, Fejes AP, Chow C, Tone A, Kalloger SE, Hamel N, Roth A, Ha G, Wan AN, Maines-Bandiera S, Salamanca C, Pasini B, Clarke BA, Lee AF, Lee CH, Zhao C, Young RH, Aparicio SA, Sorensen PH, Woo MM, Boyd N, Jones SJ, Hirst M, Marra MA, Gilks B, Shah SP, Foulkes WD, Morin GB, Huntsman DG.

N Engl J Med. 2012 Jan 19;366(3):234-42. doi: 10.1056/NEJMoa1102903.

4.

DICER1 hotspot mutations in non-epithelial gonadal tumours.

Witkowski L, Mattina J, Schönberger S, Murray MJ, Choong CS, Huntsman DG, Reis-Filho JS, McCluggage WG, Nicholson JC, Coleman N, Calaminus G, Schneider DT, Arseneau J, Stewart CJ, Foulkes WD.

Br J Cancer. 2013 Nov 12;109(10):2744-50. doi: 10.1038/bjc.2013.637. Erratum in: Br J Cancer. 2013 Dec 10;109(12):3131. Choong, C S [added].

5.

Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides.

Sabbaghian N, Srivastava A, Hamel N, Plourde F, Gajtko-Metera M, Niedziela M, Foulkes WD.

Eur J Hum Genet. 2014 Apr;22(4):564-7. doi: 10.1038/ejhg.2013.215.

6.

Germ-line and somatic DICER1 mutations in pineoblastoma.

de Kock L, Sabbaghian N, Druker H, Weber E, Hamel N, Miller S, Choong CS, Gottardo NG, Kees UR, Rednam SP, van Hest LP, Jongmans MC, Jhangiani S, Lupski JR, Zacharin M, Bouron-Dal Soglio D, Huang A, Priest JR, Perry A, Mueller S, Albrecht S, Malkin D, Grundy RG, Foulkes WD.

Acta Neuropathol. 2014 Oct;128(4):583-95. doi: 10.1007/s00401-014-1318-7.

7.

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.

de Kock L, Sabbaghian N, Plourde F, Srivastava A, Weber E, Bouron-Dal Soglio D, Hamel N, Choi JH, Park SH, Deal CL, Kelsey MM, Dishop MK, Esbenshade A, Kuttesch JF, Jacques TS, Perry A, Leichter H, Maeder P, Brundler MA, Warner J, Neal J, Zacharin M, Korbonits M, Cole T, Traunecker H, McLean TW, Rotondo F, Lepage P, Albrecht S, Horvath E, Kovacs K, Priest JR, Foulkes WD.

Acta Neuropathol. 2014 Jul;128(1):111-22. doi: 10.1007/s00401-014-1285-z.

8.

Biallelic DICER1 mutations occur in Wilms tumours.

Wu MK, Sabbaghian N, Xu B, Addidou-Kalucki S, Bernard C, Zou D, Reeve AE, Eccles MR, Cole C, Choong CS, Charles A, Tan TY, Iglesias DM, Goodyer PR, Foulkes WD.

J Pathol. 2013 Jun;230(2):154-64. doi: 10.1002/path.4196.

PMID:
23620094
9.

Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.

Klein S, Lee H, Ghahremani S, Kempert P, Ischander M, Teitell MA, Nelson SF, Martinez-Agosto JA.

J Med Genet. 2014 May;51(5):294-302. doi: 10.1136/jmedgenet-2013-101943.

10.

Recurrent DICER1 hotspot mutations in endometrial tumours and their impact on microRNA biogenesis.

Chen J, Wang Y, McMonechy MK, Anglesio MS, Yang W, Senz J, Maines-Bandiera S, Rosner J, Trigo-Gonzalez G, Grace Cheng SW, Kim J, Matzuk MM, Morin GB, Huntsman DG.

J Pathol. 2015 Oct;237(2):215-25. doi: 10.1002/path.4569.

PMID:
26033159
11.

Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma.

Seki M, Yoshida K, Shiraishi Y, Shimamura T, Sato Y, Nishimura R, Okuno Y, Chiba K, Tanaka H, Kato K, Kato M, Hanada R, Nomura Y, Park MJ, Ishida T, Oka A, Igarashi T, Miyano S, Hayashi Y, Ogawa S, Takita J.

Cancer Res. 2014 May 15;74(10):2742-9. doi: 10.1158/0008-5472.CAN-13-2470.

12.

A survey of DICER1 hotspot mutations in ovarian and testicular sex cord-stromal tumors.

Conlon N, Schultheis AM, Piscuoglio S, Silva A, Guerra E, Tornos C, Reuter VE, Soslow RA, Young RH, Oliva E, Weigelt B.

Mod Pathol. 2015 Dec;28(12):1603-12. doi: 10.1038/modpathol.2015.115.

13.

Somatic mutations of KIT in familial testicular germ cell tumours.

Rapley EA, Hockley S, Warren W, Johnson L, Huddart R, Crockford G, Forman D, Leahy MG, Oliver DT, Tucker K, Friedlander M, Phillips KA, Hogg D, Jewett MA, Lohynska R, Daugaard G, Richard S, Heidenreich A, Geczi L, Bodrogi I, Olah E, Ormiston WJ, Daly PA, Looijenga LH, Guilford P, Aass N, FossÄ SD, Heimdal K, Tjulandin SA, Liubchenko L, Stoll H, Weber W, Einhorn L, Weber BL, McMaster M, Greene MH, Bishop DT, Easton D, Stratton MR.

Br J Cancer. 2004 Jun 14;90(12):2397-401.

14.

The oncogenic roles of DICER1 RNase IIIb domain mutations in ovarian Sertoli-Leydig cell tumors.

Wang Y, Chen J, Yang W, Mo F, Senz J, Yap D, Anglesio MS, Gilks B, Morin GB, Huntsman DG.

Neoplasia. 2015 Aug;17(8):650-60. doi: 10.1016/j.neo.2015.08.003.

15.

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, Pouchet C, Gilbert L, O'Brien PK, Serfas K, Broderick P, Houlston RS, Lesueur F, Bonora E, Muljo S, Schimke RN, Bouron-Dal Soglio D, Arseneau J, Schultz KA, Priest JR, Nguyen VH, Harach HR, Livingston DM, Foulkes WD, Tischkowitz M.

JAMA. 2011 Jan 5;305(1):68-77. doi: 10.1001/jama.2010.1910.

16.

Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease.

Sahakitrungruang T, Srichomthong C, Pornkunwilai S, Amornfa J, Shuangshoti S, Kulawonganunchai S, Suphapeetiporn K, Shotelersuk V.

J Clin Endocrinol Metab. 2014 Aug;99(8):E1487-92. doi: 10.1210/jc.2014-1016.

PMID:
24823459
17.

Germline mutations of DICER1 in Chinese women with BRCA1/BRCA2-negative familial breast cancer.

Cao WM, Gao Y, Yang HJ, Xie SN, Meng XL, Pan ZW, Chen ZH, Huang J, Ye WW, Shao XY, Wang XJ.

Genet Mol Res. 2014 Dec 18;13(4):10754-60. doi: 10.4238/2014.December.18.16.

18.

Ovarian tumors related to intronic mutations in DICER1: a report from the international ovarian and testicular stromal tumor registry.

Schultz KA, Harris A, Messinger Y, Sencer S, Baldinger S, Dehner LP, Hill DA.

Fam Cancer. 2016 Jan;15(1):105-10. doi: 10.1007/s10689-015-9831-y.

PMID:
26289771
19.

Cancer-associated somatic DICER1 hotspot mutations cause defective miRNA processing and reverse-strand expression bias to predominantly mature 3p strands through loss of 5p strand cleavage.

Anglesio MS, Wang Y, Yang W, Senz J, Wan A, Heravi-Moussavi A, Salamanca C, Maines-Bandiera S, Huntsman DG, Morin GB.

J Pathol. 2013 Feb;229(3):400-9. doi: 10.1002/path.4135.

PMID:
23132766
20.

Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome.

de Kock L, Druker H, Weber E, Hamel N, Traubici J, Malkin D, Arseneau J, Stewart CJ, Bouron-Dal Soglio D, Priest JR, Foulkes WD.

Hum Pathol. 2015 Jun;46(6):917-22. doi: 10.1016/j.humpath.2015.02.008.

PMID:
25836323
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