Differential expression of Ets-1 in breast cancer among North Indian population.

Breast cancer is a highly aggressive disease contributing to high mortality rate among females across the globe owing to wide geographical variations, change in lifestyle along with rapid tumor growth, drug resistance, and high metastasis rate. To understand the molecular and genetic basis of breast cancer progression; we studied the role of E26 transformation-specific-1 (Ets-1) transcription factor which is implicated to have a role in carcinogenesis like invasion, metastasis, angiogenesis, etc. Our findings revealed an overexpression of Ets-1 gene in 75 breast cancer tumors as compared with their normal adjacent tissues. The findings significantly established a co-relation between Ets-1 expression in breast cancer tissue with hormonal receptor profiles and ductal-lobular histological subtypes in Indian population. In addition, a differential expression pattern of Ets-1 was observed between high, moderate, and low grades of breast cancer patients. The present study demonstrates a crucial role of Ets-1 transcription factor which may serve as a potential biomarker for breast carcinogenesis.

Role of the Functional Polymorphism of Survivin Gene (-31G/C) and Risk of Breast Cancer in a North Indian Population.

INTRODUCTION: Survivin is an apoptosis inhibitor and plays a primary role in cancer development and progression. One of the most common polymorphism of the survivin promoter -31G/C (rs9904341) influences its expression and is associated with the risk of cancer development. This study was conducted to explore survivin promoter gene -31G/C (rs9904341) polymorphism and the risk of breast cancer. PATIENTS AND METHODS: The study group included 190 pathologically confirmed breast cancer patients, in addition to 200 distinct cancer-free controls from Jammu and Kashmir region of India, where breast cancer is the most common cancer in women. Single nucleotide polymorphism genotyping for -31G/C polymorphism in the survivin promoter region was done using a polymerase chain reaction-restriction fragment length polymorphism method. RESULTS: The variant genotype/allele was found in 54.1% of the cases compared with 46.5% of controls. The combined prevalence of genotype GC+CC was significantly higher in patients compared with the control group (P = .02). Analyses of odds ratios (ORs) in the patient and control groups indicated that the presence of homozygous CC genotype was associated with increased risk for development of breast cancer (OR, 2.04; 95% confidence interval [CI], 1.07-2.98). The gene frequencies for G and C alleles were statistically different between patient and control groups (OR, 1.37; 95% CI, 1.03-1.84). CONCLUSION: The results suggest the association of -31G/C survivin polymorphism at a genotypic and allelic level in breast cancer.

Genetic Variation of ApoE Gene in Ethnic Kashmiri Population and Its Association with Outcome After Traumatic Brain Injury.

The outcome from traumatic brain injury (TBI) is variable and only partly explained by known prognostic factors. Genetic factors may influence the brain's susceptibility to injury or capacity for repair and regeneration. ApoE has been implicated in modifying neurological outcome after TBI, although the mechanisms by which this occurs remain poorly defined. Apolipoprotein E is an apparently multifunctional protein involved in the response of the brain to injury and in subsequent repair processes. Several studies have shown that patients with APOE e4 have a poorer outcome after TBI. This study was aimed to analyse the genotypes of ApoE in Kashmiri population and to examine the association of APOE genotype with outcome after TBI. A total of 450 subjects (300 healthy controls and 150 TBI patients) were recruited for the study. Genotyping was done by PCR-restriction fragment length polymorphism (RFLP).Our study indicated Apoe3/e3 to be the most common genotype in this study group. The allele frequency of the Apo E gene in these study subjects was observed to be 0.07 for the e2 allele, 0.82 for the e3 allele and 0.11 for the e4 allele. However, no association between the presence of APOe4 allele and outcome after head injury was observed in this study [p = 0.92]. Thus, genotype containing the e4 allele (e4/e3 and e4/e4) was not associated with unfavourable outcome after TBI in Kashmiri population.