Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney

• Published in: Nature communications Vol. 6; no. 1; p. 8891
• Main Authors: Roy, Angshumoy, Kumar, Vijetha, Zorman, Barry, Fang, Erica, Haines, Katherine M., Doddapaneni, HarshaVardhan, Hampton, Oliver A., White, Simon, Bavle, Abhishek A., Patel, Nimesh R., Eldin, Karen W., John Hicks, M., Rakheja, Dinesh, Leavey, Patrick J., Skapek, Stephen X., Amatruda, James F., Nuchtern, Jed G., Chintagumpala, Murali M., Wheeler, David A., Plon, Sharon E., Sumazin, Pavel, Parsons, D. Williams
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 17.11.2015; Nature Publishing Group; Nature Pub. Group
• Subjects: 631/208/737/2007; 692/420/755; 692/699/67/2332; 692/699/67/589/1588; 82/1; 82/80; Cancer; Case-Control Studies; Child, Preschool; Clustering; Diagnostic systems; Female; Females; Gene Duplication; Gene Expression Profiling; Gene Expression Regulation, Neoplastic; Genes; Humanities and Social Sciences; Humans; Immunoblotting; Immunohistochemistry; Infant; Kidney Neoplasms - genetics; Kidneys; Male; Males; Medical schools; Medicine; multidisciplinary; Mutation; Neoplasm Recurrence, Local - genetics; Pathology; Patients; Pediatrics; Proteins; Proto-Oncogene Proteins - genetics; Proto-Oncogene Proteins - metabolism; Repressor Proteins - genetics; Repressor Proteins - metabolism; Reproduction (copying); Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger - metabolism; Sarcoma; Sarcoma, Clear Cell - genetics; Science; Science (multidisciplinary); Sequence Analysis, DNA; Sequence Analysis, RNA; Surgery; Tandem Repeat Sequences; Tumors

The X-linked BCL-6 co-repressor ( BCOR ) gene encodes a key constituent of a variant polycomb repressive complex (PRC) that is mutated or translocated in human cancers. Here we report on the identification of somatic internal tandem duplications (ITDs) clustering in the C terminus of BCOR in 23 of 2...