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

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.

Association of Superoxide Dismutase Level in Women with Polycystic Ovary Syndrome.

Several biomarkers involved in oxidative stress may influence polycystic ovary syndrome (PCOS). Superoxide dismutase (SOD) has been commonly identified as dismutase enzyme catalyzes the conversion of superoxide to hydrogen peroxide and elemental oxygen, and could serve as an important biomarker in this direction. The objective of the present study to determine the precise role of SOD levels in women with PCOS using a meta-analysis approach. The electronic databases like PubMed, Google Scholar, Web of Sciences, Clinical trial.gov, Cochrane Database of Systematic Review were searched for obtaining relevant studies on the association of SOD level in women with PCOS. Pooled standardized mean difference with 95% CI was computed using the DerSimonian and Liard method. A total of 267 articles were screened, out of which 12 articles fulfilled the inclusion criteria of the present meta-analysis involving 558 cases and 529 controls. Analysis including overall studies observed a higher SOD level (statistically non-significant) in women with PCOS compared to controls (SMD 0.35, 95% Cl -0.91 to 1.62, P = 0.58), however, statistically significant higher SOD levels were noted in studies using serum as a source of sample (SMD 1.53, 95% CI 0.25 to 2.81, P = 0.019). In conclusion, women with PCOS exhibited increased SOD levels compared to controls suggesting that the byproduct of oxidative damage is expected to be increased in women with PCOS.