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[Cancer Research 59, 74-79, January 1, 1999]
© 1999 American Association for Cancer Research
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[Cancer Research 59, 74-79, January 1, 1999]
© 1999 American Association for Cancer Research

Advances in Brief

Germ-Line and Acquired Mutations of INI1 in Atypical Teratoid and Rhabdoid Tumors1

Jaclyn A. Biegel2, Jun-Ying Zhou, Lucy B. Rorke, Cindy Stenstrom, Luanne M. Wainwright and Benjamin Fogelgren

Division of Human Genetics and Molecular Biology [J. A. B., J-Y. Z., C. S., L. M. W., B. F.] and Department of Pathology [L. B. R.], The Children’s Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine [J. A. B.], Philadelphia, Pennsylvania 19104

We examined 18 atypical teratoid and rhabdoid tumors of the brain and 7 renal and 4 extrarenal rhabdoid tumors for mutations in the candidate rhabdoid tumor suppressor gene, INI1. Fifteen tumors had homozygous deletions of one or more exons of the INI1 gene, and the other 14 tumors demonstrated mutations. Germ-line mutations of INI1 were identified in four children, one with an atypical teratoid tumor of the brain and three with renal rhabdoid tumors. These studies suggest that INI1 is a tumor suppressor gene involved in rhabdoid tumors of the brain, kidney, and other extrarenal sites.




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