Jaclyn Biegel, PhD

Director, Cancer Cytogenetics Laboratory

Professor of Pediatrics, University of Pennsylvania School of Medicine

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The Children's Hospital of Philadelphia 3615 Civic Center Boulevard, RM 1002 ARC Bldg.


cancer cytogenetics

cancer cytogenetics
rhabdoid tumor
genetics of pediatric brain tumors


Professor of Pediatrics at the Children's Hospital of Philadelphia (2004– present)
Research Assistant Professor of Pediatrics at University of Pennsylvania School of Medicine (1990 – 1996)
Research Associate Professor of Pediatrics at University of Pennsylvania School of Medicine (1996 – 2000)
Associate Professor of Pediatrics at the Children's Hospital of Philadelphia (2000 – 2004)


Ph.D., Human Genetics, University of Pittsburgh (1981)
M.S., Human Genetics, University of Pittsburgh (1979)
B.S., Biology, Union College (1977)

Extended Bio

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PhD, Human Genetics, University of Pittsburgh

BS, Biology, Union College
MS, Hygiene (Human Genetics), University of Pittsburgh


Institute of Pathology, Shadyside Hospital, Pittsburgh, Pa.


Duke University Medical Center, Durham, NC

Year Appointed


Research Interests

Rhaboid tumors, pediatric brain tumor, INI1/SMARCB1


Selected Publications

Jackson, E.M., Sievert, A.J., Gai, X., Hakonarson, H., Judkins, A.R., Tooke, L., Perin, J.C., Xie, H., Shaikh, T.H., Biegel, J.A.. Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors.. Clin Cancer Res.. Vol 15(15) . 2009 6:1923-1930.
Biegel JA., Zhou JY., Rorke LB., Stenstrom C., Wainwright LM., Fogelgren B.. Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Research. Vol 59(1) . 1999 Jan 1:74-79.
Sievert, A.J., Jackson, E.M., Gai, X., Hakonarson, H., Judkins, A.R., Resnick, A.C., Sutton, L.N., Storm, P.B., Shaikh, T.H. and Biegel, J.A.. Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene.. Brain Pathology. Vol 19. 2009:449-458.
Judkins AR., Mauger J., Rorke LB., Biegel JA.. Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. American Journal of Surgical Pathology. Vol 28(5) . 2004 May:644-650.
Biegel JA.. Cytogenetics and molecular genetics of childhood brain tumors.. Neuro-Oncology. Vol 1(2) . 1999 Apr:139-152.
Swensen, J.J., Keyser, J., Coffin, C.M., Biegel, J.A., Viskochil, D.H., and Williams, M.S.. Familial occurrence of schwannomas and malignant rhabdoid tumor associated with a duplication in SMARCB1.. J. Med. Genet.. Vol 44. 2009:68-72.
Jackson, E.M. , Shaikh, T.H., Gururangan, S., Jones, M.C., Malkin, D., Nikkel, S.M., Zuppan, C.W., Wainwright, L.M., Zhang, F., Biegel, J.A.. High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor.. Human Genet. Vol 122. 2007:117-127.
Wu, Y., Lun, X., Zhou, H., Wang, L., Sun, B., Bell, J.C., Barrett, J.W., McFadden, G., Biegel, J.A., Senger, D.L., Forsyth, P.A.. Oncolytic efficacy of recombinant vesicular stomatitis virus and myxoma virus in experimental models of rhabdoid tumors.. Clinical Cancer Research. Vol 14. 2008:1218-1227.
Pan, E., Pellarin, M., Holmes, E., Smirnov, I., Misra, A., Eberhart, C.G., Burger, P.C., Biegel, J.A., Feuerstein, B. G.. Isochromosome 17q is a negative prognostic factor in poor-risk childhood medulloblastoma patients. Clin Cancer Res. Vol 11(13) . 2005:4733-4740.