Abstract 5185: Identification of BRIP1 as a novel marker of breast tumor malignancy in the Omani population

Abstract

Abstract The rationale of the present study is based on the following observations made in Oman: 1) a significantly increasing number of younger females (25-40 years) present to the clinic with advanced stage of breast cancer (BC); 2) the rate of consanguinity is significantly high (∼50%); and 3) the transition from normal/benign to malignant phenotype of breast tumor requires the involvement of a subset of specific genes. The long-term objective of this study was to identify and validate the gene(s) that underpin BC malignant transformation using functional genomic approaches. RNA samples were isolated from 40 malignant breast tumor tissues and 40 normal/benign breast tissues and analyzed by microarray gene expression profiling. Among a number of differentially expressed genes, BRIP1 showing a 5-fold up-regulation was identified as a potential gene that might underpin the transition from the benign to the malignant phenotype. The differential expression of BRIP1 was structurally validated by RT-PCR using the remaining RNA of the same samples previously examined by microarray. Pathway analysis was carried out to predict the major functional pathways involving BRIP1 to other identified genes. Ongoing sequencing of these genes using DNA extracted from the same samples will ultimately identify any genetic alteration that can affect the normal function of these genes. Functional validation assays will validate further the physiological relevance of BRIP1 in tumor malignancy, and perhaps other novel gene(s) specific to BC in the Omani population. This study has identified BRIP1 as a novel potential marker for BC malignancy, and can be a potential biomarker for early diagnosis of BC and/or a target to pave the way towards the design of anti-BC therapeutic strategies. Citation Format: Ishita Gupta, Allal Ouhtit, Marwa Al-Riyami, Adil Al Ajmi. Identification of BRIP1 as a novel marker of breast tumor malignancy in the Omani population. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 5185. doi:10.1158/1538-7445.AM2015-5185