384P - Study of immunohistochemical and clinicopathologic features of female breast cancer patients with /without BRCA1 mutation in Eastern India

Date 27 September 2014
Event ESMO 2014
Session Poster Display session
Topics Breast Cancer, Metastatic
Pathology/Molecular Biology
Presenter Jayasri Basak
Citation Annals of Oncology (2014) 25 (suppl_4): iv116-iv136. 10.1093/annonc/mdu329
Authors J. Basak1, A. Chakraborty2, K. Chaudhuri3, A. Katarkar3, C.K. Bose4, A. Mukhopadhyay5
  • 1Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute, 700016 - Kolkata/IN
  • 2Molecular Biology And Human Genetics, Netaji Subhas Chandra Bose Cancer Research Institute, 700016 - Kolkata/IN
  • 32molecular & Human Genetics, Indian Institute of Chemical Biology, 700032 - Kolkata/IN
  • 4Oncology, Netaji Subhas Chandra Bose Cancer Research Institute, 700016 - Kolkata/IN
  • 5Dept. Medical Oncology, Netaji Subhas Chandra Bose Cancer Research Institute, 700016 - Kolkata/IN

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.