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Items: 1 to 20 of 192

1.

Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.

Pugh TJ, Yu W, Yang J, Field AL, Ambrogio L, Carter SL, Cibulskis K, Giannikopoulos P, Kiezun A, Kim J, McKenna A, Nickerson E, Getz G, Hoffher S, Messinger YH, Dehner LP, Roberts CW, Rodriguez-Galindo C, Williams GM, Rossi CT, Meyerson M, Hill DA.

Oncogene. 2014 Nov 6;33(45):5295-302. doi: 10.1038/onc.2014.150. Epub 2014 Jun 9.

2.

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. Epub 2014 Mar 27.

3.

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
4.

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. Epub 2014 Mar 27.

5.

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. Epub 2015 Jul 6.

PMID:
26033159
6.

DICER1 mutations in familial pleuropulmonary blastoma.

Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messinger Y, Goodfellow PJ.

Science. 2009 Aug 21;325(5943):965. doi: 10.1126/science.1174334. Epub 2009 Jun 25.

7.

Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder.

Stewart DR, Messinger Y, Williams GM, Yang J, Field A, Schultz KA, Harney LA, Doros LA, Dehner LP, Hill DA.

Hum Genet. 2014 Nov;133(11):1443-50. doi: 10.1007/s00439-014-1474-9. Epub 2014 Aug 14.

8.

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.

9.

Somatic DICER1 gene mutation in sporadic intraocular medulloepithelioma without pleuropulmonary blastoma syndrome.

Durieux E, Descotes F, Nguyen AM, Grange JD, Devouassoux-Shisheboran M.

Hum Pathol. 2015 May;46(5):783-7. doi: 10.1016/j.humpath.2015.01.020. Epub 2015 Feb 19.

PMID:
25791583
10.

DICER1 syndrome: a new cancer syndrome.

Schultze-Florey RE, Graf N, Vorwerk P, Koscielniak E, Schneider DT, Kratz CP.

Klin Padiatr. 2013 May;225(3):177-8. doi: 10.1055/s-0033-1337976. Epub 2013 Apr 26.

PMID:
23625684
11.

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.

12.

Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry.

Schultz KA, Pacheco MC, Yang J, Williams GM, Messinger Y, Hill DA, Dehner LP, Priest JR.

Gynecol Oncol. 2011 Aug;122(2):246-50. doi: 10.1016/j.ygyno.2011.03.024. Epub 2011 Apr 17.

13.

Fibroblast Growth Factor 9 Regulation by MicroRNAs Controls Lung Development and Links DICER1 Loss to the Pathogenesis of Pleuropulmonary Blastoma.

Yin Y, Castro AM, Hoekstra M, Yan TJ, Kanakamedala AC, Dehner LP, Hill DA, Ornitz DM.

PLoS Genet. 2015 May 15;11(5):e1005242. doi: 10.1371/journal.pgen.1005242. eCollection 2015 May.

14.

Cell- and developmental stage-specific Dicer1 ablation in the lung epithelium models cystic pleuropulmonary blastoma.

Wagh PK, Gardner MA, Ma X, Callahan M, Shannon JM, Wert SE, Messinger YH, Dehner LP, Hill DA, Wikenheiser-Brokamp KA.

J Pathol. 2015 May;236(1):41-52. doi: 10.1002/path.4500. Epub 2015 Jan 20.

15.

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. Epub 2011 Dec 21.

16.

Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma.

de Kock L, Plourde F, Carter MT, Hamel N, Srivastava A, Meyn MS, Arseneau J, Bouron-Dal Soglio D, Foulkes WD.

Pediatr Blood Cancer. 2013 Dec;60(12):2091-2. doi: 10.1002/pbc.24692. Epub 2013 Jul 19. No abstract available.

PMID:
23868280
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.

DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: What the paediatric urologist needs to know.

Faure A, Atkinson J, Bouty A, O'Brien M, Levard G, Hutson J, Heloury Y.

J Pediatr Urol. 2016 Feb;12(1):5-10. doi: 10.1016/j.jpurol.2015.08.012. Epub 2015 Sep 26. Review.

PMID:
26454454
19.

The co-occurrence of an ovarian Sertoli-Leydig cell tumor with a thyroid carcinoma is highly suggestive of a DICER1 syndrome.

Durieux E, Descotes F, Mauduit C, Decaussin M, Guyetant S, Devouassoux-Shisheboran M.

Virchows Arch. 2016 May;468(5):631-6. doi: 10.1007/s00428-016-1922-0. Epub 2016 Mar 16. Review.

PMID:
26983701
20.

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. Epub 2014 May 20.

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