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Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors

Overview of attention for article published in Molecular Cytogenetics, February 2016
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Title
Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors
Published in
Molecular Cytogenetics, February 2016
DOI 10.1186/s13039-016-0227-y
Pubmed ID
Authors

A. C. V. Krepischi, M. Maschietto, E. N. Ferreira, A. G. Silva, S. S. Costa, I. W. da Cunha, B. D. F. Barros, P. E. Grundy, C. Rosenberg, D. M. Carraro, I. W. Cunha

Abstract

Wilms tumor (WT) has a not completely elucidated pathogenesis. DNA copy number alterations (CNAs) are common in cancer, and often define key pathogenic events. The aim of this work was to investigate CNAs in order to disclose new candidate genes for Wilms tumorigenesis. Array-CGH of 50 primary WTs without pre-chemotherapy revealed a few recurrent CNAs not previously reported, such as 7q and 20q gains, and 7p loss. Genomic amplifications were exclusively detected in 3 cases of WTs that later relapsed, which also exhibited an increased frequency of gains affecting a 16.2 Mb 1q21.1-q23.2 region, losses at 11p, 11q distal, and 16q, and WT1 deletions. Conversely, aneuploidies of chromosomes 13 and 19 were found only in WTs without further relapse. The 1q21.1-q23.2 gain associated with WT relapse harbours genes such as CHD1L, CRABP2, GJA8, MEX3A and MLLT11 that were found to be over-expressed in WTs. In addition, down-regulation of genes encompassed by focal deletions highlighted new potential tumor suppressors such as CNKSR1, MAN1C1, PAQR7 (1p36), TWIST1, SOSTDC1 (7p14.1-p12.2), BBOX and FIBIN (11p13), and PLCG2 (16q). This study confirmed the presence of CNAs previously related to WT and characterized new CNAs found only in few cases. The later were found in higher frequency in relapsed cases, suggesting that they could be associated with WT progression.

Mendeley readers

The data shown below were compiled from readership statistics for 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 22 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 23%
Professor > Associate Professor 3 14%
Student > Bachelor 2 9%
Student > Doctoral Student 2 9%
Student > Ph. D. Student 2 9%
Other 5 23%
Unknown 3 14%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 7 32%
Medicine and Dentistry 5 23%
Agricultural and Biological Sciences 3 14%
Unspecified 1 5%
Immunology and Microbiology 1 5%
Other 1 5%
Unknown 4 18%