BCOR involvement in cancer

Author:

Astolfi Annalisa1,Fiore Michele2,Melchionda Fraia2,Indio Valentina1,Bertuccio Salvatore N2,Pession Andrea23

Affiliation:

1. ‘Giorgio Prodi’ Cancer Research Center, University of Bologna, 40138 Bologna, Italy

2. Pediatric Oncology & Hematology Unit ‘Lalla Seràgnoli’, S Orsola-Malpighi Hospital, 40138 Bologna, Italy

3. Department of Medical & Surgical Sciences, University of Bologna, S Orsola-Malpighi Hospital, 40138 Bologna, Italy

Abstract

BCOR is a gene that encodes for an epigenetic regulator involved in the specification of cell differentiation and body structure development and takes part in the noncanonical polycomb repressive complex 1. This review provides a comprehensive summary of BCOR’s involvement in oncology, illustrating that various BCOR aberrations, such as the internal tandem duplications of the PCGF Ub-like fold discriminator domain and different gene fusions (mainly BCOR–CCNB3, BCOR–MAML3 and ZC3H7B–BCOR), represent driver elements of various sarcomas such as clear cell sarcoma of the kidney, primitive mesenchymal myxoid tumor of infancy, small round blue cell sarcoma, endometrial stromal sarcoma and histologically heterogeneous CNS neoplasms group with similar genomic methylation patterns known as CNS-HGNET-BCOR. Furthermore, other BCOR alterations (often loss of function mutations) recur in a large variety of mesenchymal, epithelial, neural and hematological tumors, suggesting a central role in cancer evolution.

Publisher

Future Medicine Ltd

Subject

Cancer Research,Genetics

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