Germ-Line and Acquired Mutations of INI1 in Atypical Teratoid and Rhabdoid Tumors
JA Biegel, JY Zhou, LB Rorke, C Stenstrom… - Cancer research, 1999 - AACR
JA Biegel, JY Zhou, LB Rorke, C Stenstrom, LM Wainwright, B Fogelgren
Cancer research, 1999•AACRWe 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 …
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 …
Abstract
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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