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Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD. Witkowski L, et al. Nat Genet. 2014 May;46(5):438-43. doi: 10.1038/ng.2931. Epub 2014 Mar 23. Nat Genet. 2014. PMID: 24658002
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. Witkowski L, et al. Br J Cancer. 2013 Nov 12;109(10):2744-50. doi: 10.1038/bjc.2013.637. Epub 2013 Oct 17. Br J Cancer. 2013. PMID: 24136150 Free PMC article.
SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis.
Hasselblatt M, Nagel I, Oyen F, Bartelheim K, Russell RB, Schüller U, Junckerstorff R, Rosenblum M, Alassiri AH, Rossi S, Schmid I, Gottardo NG, Toledano H, Viscardi E, Balbin M, Witkowski L, Lu Q, Betts MJ, Foulkes WD, Siebert R, Frühwald MC, Schneppenheim R. Hasselblatt M, et al. Among authors: witkowski l. Acta Neuropathol. 2014 Sep;128(3):453-6. doi: 10.1007/s00401-014-1323-x. Epub 2014 Jul 25. Acta Neuropathol. 2014. PMID: 25060813 No abstract available.
Primary rhabdoid tumor of the ovary: When large cells become small cells.
Rabinovich A, Witkowski L, Shaco-Levi R, Meirovitz M, Hasselblatt M, Foulkes WD. Rabinovich A, et al. Among authors: witkowski l. Gynecol Oncol Rep. 2015 Mar 19;12:64-6. doi: 10.1016/j.gore.2015.03.005. eCollection 2015 Apr. Gynecol Oncol Rep. 2015. PMID: 26076162 Free PMC article.
Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor.
Fahiminiya S, Witkowski L, Nadaf J, Carrot-Zhang J, Goudie C, Hasselblatt M, Johann P, Kool M, Lee RS, Gayden T, Roberts CW, Biegel JA, Jabado N, Majewski J, Foulkes WD. Fahiminiya S, et al. Among authors: witkowski l. Oncotarget. 2016 Jan 12;7(2):1732-40. doi: 10.18632/oncotarget.6459. Oncotarget. 2016. PMID: 26646792 Free PMC article.
160 results