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

Sep 24, 2026

Study investigates how mutations and expression of the BORIS gene relate to breast cancer progression. BORIS is described as a cancer-testis antigen transcription factor linked to chromosome 20q13.2. A population-based cohort of 155 breast cancer tissue samples and matched normal adjacent tissues from Indian patients was analyzed. BORIS mutations were detected using PCR-SSCP with DNA sequencing, and protein expression was measured by immunohistochemistry. Mutation and expression levels were correlated with clinicopathological parameters.

LanguageEnglish

CategoryHealthcare

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Pages14

Reading Time35 min

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Abstract

Introduction

Materials and Methods

Results

Conclusion

[www.oncotarget.com](www.oncotarget.com) Oncotarget, 2023, Vol. 14, pp: 528-541 Research Paper Association of mutation and expression of the brother of the regulator of imprinted sites (BORIS) gene with breast cancer progression Mohammad Salman Akhtar 1,2, Naseem Akhter2,8, Arshi Talat3, Raed A . Alharbi4, Abdulmajeed A.A . Sindi 1, 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 9School of Biotechnology, Jawahar Lal Nehru University, New Delhi, India Correspondence to: Mohammad Salman Akhtar, [email](email: mdsalmanakhtar@yahoo.com)[: mdsalmanakhtar@yahoo.com](email: mdsalmanakhtar@yahoo.com), [milyas@bu.edu.sa](milyas@bu.edu.sa)[ ](milyas@bu.edu.sa)[Keywords](Keywords: BORIS)[: BORIS](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. ABSTRACT 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

FAQs

What does the study evaluate regarding BORIS in breast cancer?

It evaluates whether BORIS mutations and BORIS protein expression are associated with breast cancer progression and clinical features.

How were BORIS mutations and BORIS protein expression measured?

BORIS mutations were detected using PCR-SSCP and automated DNA sequencing, and BORIS protein expression was assessed by immunohistochemistry.

What associations were reported between BORIS and clinicopathological parameters?

Significant associations were reported between BORIS mutations and nodal status, estrogen receptor expression, progesterone receptor expression, clinical stage, and menopausal status; BORIS protein expression also showed significant associations with several clinical features.

Sep 24, 2026

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