Analysis of BRCA1 Gene Rearrangements in Breast Carcinomas by RT-PCR and ER, PR, HER2NEU Status by IHC and HPE Correlation.

Aim: An attempt to analyze invasive ductal carcinomas of the breast, based on the histopathological sub classification and grading, the hormonal status on immunohistochemistry (IHC) and the BRCA1 gene expression.

Methods: Fifty patients were selected from the Kancheepuram area on the basis of their admissions to the Surgical Out-Patients Wing of the Meenakshi Medical College and Hospital over a period of 3 years from 2008-2011.

Results: Among the fifty patients who were selected in the case series, the most common age group was 41-60 years (23 patients). The grade 3 tumours were the commonest. An immunohistochemical evaluation of the hormone receptors revealed most of the tumours to be of the luminal subtype. BRCA1 gene mutation analysis showed that all the 50 cases of breast cancer elaborated an up-regulation of the selected base-pair fragment.

Conclusion: Among the various determinants of breast cancer development, this study proved that age, the histological tumour grade and the immunohistochemical analysis also formed the important factors that aided in the diagnosis of breast cancers and their classifications. Also, genetic studies could provide useful insights by helping in the determination of the presence or the absence of gene mutations, which could revolutionize the treatment. This would be possible by using gene therapy in the future.