Research Papers:

Association of mutation and expression of the brother of the regulator of imprinted sites (BORIS) gene with breast cancer progression

Mohammad Salman Akhtar _, Naseem Akhter, Arshi Talat, Raed A. Alharbi, Abdulmajeed A.A. Sindi, Faisal Klufah, Hanan E. Alyahyawi, Abdulmohsen Alruwetei, Abrar Ahmad, Mazin A. Zamzami, SVS Deo, Syed Akhtar Husain, Osama A. Badi and Mohammad Jahir Khan

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Oncotarget. 2023; 14:528-541. https://doi.org/10.18632/oncotarget.28442

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Mohammad Salman Akhtar1,2, Naseem Akhter2,8, Arshi Talat3, Raed A. Alharbi4, Abdulmajeed A.A. Sindi1, Faisal Klufah4, Hanan E. Alyahyawi4, Abdulmohsen Alruwetei5, Abrar Ahmad6, Mazin A. Zamzami6, SVS Deo7, Syed Akhtar Husain2, Osama A. Badi6 and Mohammad Jahir Khan9

1 Department of Basic Medical Sciences, Faculty of Applied Medical Sciences, Al-Baha University, Al-Baha, Saudi Arabia

2 Department of Biosciences, Faculty of Natural Sciences, Jamia Millia Islamia, New Delhi, India

3 Department of Orthodontics and Dentofacial Orthopedics, ITS Dental College, Hospital and Research Centre, Greater Noida, Delhi-NCR, India

4 Department of Laboratory Medicine, Faculty of Applied Medical Sciences, Al-Baha University, Al-Baha, Saudi Arabia

5 Department of Medical Laboratory, College of Applied Medical Sciences, Qassim University, Qassim, Saudi Arabia

6 Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia

7 Department of Surgical Oncology, BRA- IRCH, All India Institute of Medical Sciences (AIIMS), New Delhi, India

8 Department of Neurology, Henry Ford Health System, Detroit, MI 48202, USA

9 School of Biotechnology, Jawahar Lal Nehru University, New Delhi, India

Correspondence to:

Mohammad Salman Akhtar, email: [email protected],
[email protected]

Keywords: BORIS; breast cancer; mutation; transcription factor; PCR-SSCP

Received: February 06, 2023     Accepted: May 05, 2023     Published: May 26, 2023

Copyright: © 2023 Akhtar et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Introduction: The BORIS, 11 zinc-finger transcription factors, is a member of the cancer-testis antigen (CTA) family. It is mapped to chromosome number 20q13.2 and this region is genetically linked to the early onset of breast cancer. The current study analyzed the correlation between BORIS mutations and the expression of the protein in breast cancer cases.

Materials and Methods: A population-based study including a total of 155 breast cancer tissue samples and an equal number of normal adjacent tissues from Indian female breast cancer patients was carried out. Mutations of the BORIS gene were detected by polymerase chain reaction-single standard confirmation polymorphisms (PCR-SSCP) and automated DNA sequencing and by immunohistochemistry for BORIS protein expression were performed. The observed findings were correlated with several clinicopathological parameters to find out the clinical relevance of associations.

Results: Of all the cases 16.12% (25/155) showed mutations in the BORIS gene. The observed mutations present on codon 329 are missense, leading to Val> Ile (G>A) change on exon 5 of the BORIS gene. A significant association was observed between mutations of the BORIS gene and some clinicopathological features like nodal status (p = 0.013), estrogen receptor (ER) expression (p = 0.008), progesterone receptor (PR) expression (p = 0.039), clinical stage (p = 0.010) and menopausal status (p = 0.023). The protein expression analysis showed 20.64% (32/155) samples showing low or no expression (+), 34.19% (53/155) with moderate expression (++), and 45.17% (70/155) showing high expression (+++) of BORIS protein. A significant association was observed between the expression of BORIS protein and clinicopathological features like clinical stage (p = 0.013), nodal status (p = 0.049), ER expression (p = 0.039), and PR expression (p = 0.027). When mutation and protein expression were correlated in combination with clinicopathological parameters a significant association was observed in the category of high (+++) level of BORIS protein expression (p = 0.017).

Conclusion: The BORIS mutations and high protein expression occur frequently in carcinoma of the breast suggesting their association with the onset and progression of breast carcinoma. Further, the BORIS has the potential to be used as a biomarker.

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