Experts investigate the correlation between BORIS mutations and protein expression

Reviewed by Lily Ramsey, LLMJun 6 2023

A new research paper was published in Oncotarget's Volume 14 on May 26, 2023, entitled, "Association of mutation and expression of the brother of the regulator of imprinted sites (BORIS) gene with breast cancer progression."

The brother of the regulator of imprinted sites (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.

In the current study, researchers 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 from Al-Baha University, Jamia Millia Islamia, ITS Dental College, Qassim University, King Abdulaziz University, All India Institute of Medical Sciences (AIIMS), Henry Ford Health System, and Jawahar Lal Nehru University analyzed the correlation between BORIS mutations and the expression of the protein in breast cancer cases.

"The present study is to find out the mutations of BORIS genes in hot spot exons by PCR-SSCP and by automated DNA sequencing in breast cancer tissue samples along with adjacent normal samples."

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.

"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."