BORIS gene mutation and expression: Link to breast cancer progression

A new research paper titled "Association of mutation and expression of the brother of the regulator of imprinted sites (BORIS) gene with breast cancer progression" has been published in Oncotarget.

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 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," the researchers explain.

The team carried out 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. Mutations of the BORIS gene were detected by polymerase chain reaction-single standard confirmation polymorphisms (PCR-SSCP), and automated DNA sequencing 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 researchers observe, "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."