384P - Study of Immunohistochemical and Clinicopathologic Features of Female Breast Cancer Patients with /Without Brca1 Mutation in Eastern India

Abstract

ABSTRACT Aim: Mutations in the BRCA1 and BRCA2 genes confer greater risk of developing breast cancer. A hospital based study from Eastern India to find the associations among molecular, immunohistochemical, and clinicopathologic features of the breast cancer patients with and without BRCA1 mutations was aimed Methods: From March 2010 to November 2013, 214 patients undergoing surgical treatment in the Department of Surgery of our Institute were subjects of this study. Tumor size was evaluated & histological grading of tumors was done. All paraffin embedded surgical specimens were tested for immunohistochemical features (expression of ER, PR and HER2/Neu status). Detection of BRCA1 gene mutations for exons 2,8,10,11,14,15 and 20 were performed by ARMS-PCR followed by direct DNA sequencing. Co-relation of hormone receptors, BRCA1 gene mutations and outcome of therapy were assessed for prognostication. Results: Out of 214 patients, 126 and 88 were with and without family history respectively. Average age was 48.12 + 10.32 years. Invasive ductal carcinoma was the most common histology among them. Mean tumor size was 2.52 + 0.42 cm and 51.40% patients had Grade II tumor. Among these patients 41.12%, 53.27% and 18.22% patients were found having ER+, PR+ and triple negative cancer. Mutations of BRCA1 gene was found in 9 patients. Seven 5382insC, two missense mutations (c.5237A > C; p.His1746Pro and c.5210 G > A; p.Arg1737 Lys) in exon 20 were identified. Long term disease free survival (DFS) was seen in 9 patients who were BRCA1 & hormone receptor positive (ER+, PR+). Conclusions: These data showed a correlation between the BRCA1 mutations with clinical characteristics. BRCA1 mutation carriers who are older at first BC diagnosis are more likely to have ER+, PR+ tumors than younger BRCA1 mutation carriers. Disclosure: All authors have declared no conflicts of interest.