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231 results

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Page 1
Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis.
Light N, Layeghifard M, Attery A, Subasri V, Zatzman M, Anderson ND, Hatkar R, Blay S, Chen D, Novokmet A, Fuligni F, Tran J, de Borja R, Agarwal H, Waldman L, Abegglen LM, Albertson D, Finlay JL, Hansford JR, Behjati S, Villani A, Gerstung M, Alexandrov LB, Somers GR, Schiffman JD, Rotter V, Malkin D, Shlien A. Light N, et al. Among authors: schiffman jd. Nat Commun. 2023 Jan 5;14(1):77. doi: 10.1038/s41467-022-35727-y. Nat Commun. 2023. PMID: 36604421 Free PMC article.
Genome wide copy number analysis of paediatric Burkitt lymphoma using formalin-fixed tissues reveals a subset with gain of chromosome 13q and corresponding miRNA over expression.
Schiffman JD, Lorimer PD, Rodic V, Jahromi MS, Downie JM, Bayerl MG, Sanmann JN, Althof PA, Sanger WG, Barnette P, Perkins SL, Miles RR. Schiffman JD, et al. Br J Haematol. 2011 Nov;155(4):477-86. doi: 10.1111/j.1365-2141.2011.08883.x. Epub 2011 Oct 8. Br J Haematol. 2011. PMID: 21981616 Free PMC article.
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium.
Mai PL, Malkin D, Garber JE, Schiffman JD, Weitzel JN, Strong LC, Wyss O, Locke L, Means V, Achatz MI, Hainaut P, Frebourg T, Evans DG, Bleiker E, Patenaude A, Schneider K, Wilfond B, Peters JA, Hwang PM, Ford J, Tabori U, Ognjanovic S, Dennis PA, Wentzensen IM, Greene MH, Fraumeni JF Jr, Savage SA. Mai PL, et al. Among authors: schiffman jd. Cancer Genet. 2012 Oct;205(10):479-87. doi: 10.1016/j.cancergen.2012.06.008. Epub 2012 Aug 29. Cancer Genet. 2012. PMID: 22939227 Free PMC article.
Connecting molecular pathways to hereditary cancer risk syndromes.
Testa JR, Malkin D, Schiffman JD. Testa JR, et al. Among authors: schiffman jd. Am Soc Clin Oncol Educ Book. 2013:81-90. doi: 10.14694/EdBook_AM.2013.33.81. Am Soc Clin Oncol Educ Book. 2013. PMID: 23714463 Free PMC article. Review.
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.
Shah S, Schrader KA, Waanders E, Timms AE, Vijai J, Miething C, Wechsler J, Yang J, Hayes J, Klein RJ, Zhang J, Wei L, Wu G, Rusch M, Nagahawatte P, Ma J, Chen SC, Song G, Cheng J, Meyers P, Bhojwani D, Jhanwar S, Maslak P, Fleisher M, Littman J, Offit L, Rau-Murthy R, Fleischut MH, Corines M, Murali R, Gao X, Manschreck C, Kitzing T, Murty VV, Raimondi S, Kuiper RP, Simons A, Schiffman JD, Onel K, Plon SE, Wheeler D, Ritter D, Ziegler DS, Tucker K, Sutton R, Chenevix-Trench G, Li J, Huntsman DG, Hansford S, Senz J, Walsh T, Lee M, Hahn CN, Roberts K, King MC, Lo SM, Levine RL, Viale A, Socci ND, Nathanson KL, Scott HS, Daly M, Lipkin SM, Lowe SW, Downing JR, Altshuler D, Sandlund JT, Horwitz MS, Mullighan CG, Offit K. Shah S, et al. Among authors: schiffman jd. Nat Genet. 2013 Oct;45(10):1226-1231. doi: 10.1038/ng.2754. Epub 2013 Sep 8. Nat Genet. 2013. PMID: 24013638 Free PMC article.
Predisposition to pediatric and hematologic cancers: a moving target.
Malkin D, Nichols KE, Zelley K, Schiffman JD. Malkin D, et al. Among authors: schiffman jd. Am Soc Clin Oncol Educ Book. 2014:e44-55. doi: 10.14694/EdBook_AM.2014.34.e44. Am Soc Clin Oncol Educ Book. 2014. PMID: 24857136 Free article. Review.
Parent decision-making around the genetic testing of children for germline TP53 mutations.
Alderfer MA, Zelley K, Lindell RB, Novokmet A, Mai PL, Garber JE, Nathan D, Scollon S, Chun NM, Patenaude AF, Ford JM, Plon SE, Schiffman JD, Diller LR, Savage SA, Malkin D, Ford CA, Nichols KE. Alderfer MA, et al. Among authors: schiffman jd. Cancer. 2015 Jan 15;121(2):286-93. doi: 10.1002/cncr.29027. Epub 2014 Sep 15. Cancer. 2015. PMID: 25223899 Free article.
TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome.
Ribi S, Baumhoer D, Lee K, Edison, Teo AS, Madan B, Zhang K, Kohlmann WK, Yao F, Lee WH, Hoi Q, Cai S, Woo XY, Tan P, Jundt G, Smida J, Nathrath M, Sung WK, Schiffman JD, Virshup DM, Hillmer AM. Ribi S, et al. Among authors: schiffman jd. Oncotarget. 2015 Apr 10;6(10):7727-40. doi: 10.18632/oncotarget.3115. Oncotarget. 2015. PMID: 25762628 Free PMC article.
231 results