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Article

Expression of BARD1 β Isoform in Selected Pediatric Tumors

by
Anna Jasiak
1,2,
Natalia Krawczyńska
1,3,
Mariola Iliszko
1,2,
Katarzyna Czarnota
4,
Kamil Buczkowski
4,5,
Joanna Stefanowicz
6,
Elżbieta Adamkiewicz-Drożyńska
6,
Grzegorz Cichosz
1 and
Ewa Iżycka-Świeszewska
4,5,*
1
Department of Biology and Medical Genetics, Medical University of Gdansk, 1 Debinki St., 80-211 Gdansk, Poland
2
Laboratory of Clinical Genetics, University Clinical Centre, 17 Smoluchowskiego St., 80-210 Gdansk, Poland
3
Department of Molecular and Integrative Physiology, University of Illinois at Urbana-Champaign, 407S Goodwin Ave, Urbana, IL 61801, USA
4
Department of Pathology and Neuropathology, Medical University of Gdansk, 1 Debinki St., 80-211 Gdansk, Poland
5
Department of Pathomorphology, Copernicus Hospitals, 1-6 Nowe Ogrody St., 80-803 Gdansk, Poland
6
Department of Pediatrics, Hematology, Oncology, Medical University of Gdansk, 1 Debinki St., 80-211 Gdansk, Poland
*
Author to whom correspondence should be addressed.
Genes 2021, 12(2), 168; https://doi.org/10.3390/genes12020168
Submission received: 20 December 2020 / Revised: 18 January 2021 / Accepted: 23 January 2021 / Published: 26 January 2021
(This article belongs to the Special Issue BARD1 in Cancer)

Abstract

Currently, many new possible biomarkers and mechanisms are being searched and tested to analyse pathobiology of pediatric tumours for the development of new treatments. One such candidate molecular factor is BARD1 (BRCA1 Associated RING Domain 1)—a tumour-suppressing gene involved in cell cycle control and genome stability, engaged in several types of adult-type tumours. The data on BARD1 significance in childhood cancer is limited. This study determines the expression level of BARD1 and its isoform beta (β) in three different histogenetic groups of pediatric cancer—neuroblastic tumours, and for the first time in chosen germ cell tumours (GCT), and rhabdomyosarcoma (RMS), using the qPCR method. We found higher expression of beta isoform in tumour compared to healthy tissue with no such changes concerning BARD1 full-length. Additionally, differences in expression of BARD1 β between histological types of neuroblastic tumours were observed, with higher levels in ganglioneuroblastoma and ganglioneuroma. Furthermore, a higher expression of BARD1 β characterized yolk sac tumours (GCT type) and RMS when comparing with non-neoplastic tissue. These tumours also showed a high expression of the TERT (Telomerase Reverse Transcriptase) gene. In two RMS cases we found deep decrease of BARD1 β in post-chemotherapy samples. This work supports the oncogenicity of the beta isoform in pediatric tumours, as well as demonstrates the differences in its expression depending on the histological type of neoplasm, and the level of maturation in neuroblastic tumours.
Keywords: BARD1; BARD1 β; BARD1 isoforms; splicing; pediatric tumor; germ cell tumors; yolk sac tumors; rhabdomyosarcoma; neuroblastoma; TERT BARD1; BARD1 β; BARD1 isoforms; splicing; pediatric tumor; germ cell tumors; yolk sac tumors; rhabdomyosarcoma; neuroblastoma; TERT

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MDPI and ACS Style

Jasiak, A.; Krawczyńska, N.; Iliszko, M.; Czarnota, K.; Buczkowski, K.; Stefanowicz, J.; Adamkiewicz-Drożyńska, E.; Cichosz, G.; Iżycka-Świeszewska, E. Expression of BARD1 β Isoform in Selected Pediatric Tumors. Genes 2021, 12, 168. https://doi.org/10.3390/genes12020168

AMA Style

Jasiak A, Krawczyńska N, Iliszko M, Czarnota K, Buczkowski K, Stefanowicz J, Adamkiewicz-Drożyńska E, Cichosz G, Iżycka-Świeszewska E. Expression of BARD1 β Isoform in Selected Pediatric Tumors. Genes. 2021; 12(2):168. https://doi.org/10.3390/genes12020168

Chicago/Turabian Style

Jasiak, Anna, Natalia Krawczyńska, Mariola Iliszko, Katarzyna Czarnota, Kamil Buczkowski, Joanna Stefanowicz, Elżbieta Adamkiewicz-Drożyńska, Grzegorz Cichosz, and Ewa Iżycka-Świeszewska. 2021. "Expression of BARD1 β Isoform in Selected Pediatric Tumors" Genes 12, no. 2: 168. https://doi.org/10.3390/genes12020168

APA Style

Jasiak, A., Krawczyńska, N., Iliszko, M., Czarnota, K., Buczkowski, K., Stefanowicz, J., Adamkiewicz-Drożyńska, E., Cichosz, G., & Iżycka-Świeszewska, E. (2021). Expression of BARD1 β Isoform in Selected Pediatric Tumors. Genes, 12(2), 168. https://doi.org/10.3390/genes12020168

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