Role of BRCA1 and BRCA2 Gene Mutation in Clinical and Histological Aspect of Breast Carcinoma- An Observational Study.

Breast Carcinoma

Abstract

Background: Breast is one of the commonest sites of malignancy in women. Together BRCA1 and BRCA2 account for nearly all high risk families with breast and ovarian cancer. The present study was undertaken with the aim of screening of breast carcinoma patients for BRCA1 and BRCA2 gene mutation and to study nuclear grades in aspirated cytology smears and histological sections in carcinoma breast. Subjects and Methods: This study was carried out in the Department of pathology and General Surgery in a tertiary care centre , over a period of one year.   Proper examination was done and the diagnosis of carcinoma breast was then confirmed by fine needle aspiration cytology (FNAC) needle biopsy or incisional/excisional biopsy. 20 cc of whole blood was taken in EDTA vial from the patients and preserved in liquid nitrogen at 190 degree celsius. The blood samples obtained from patients were used for mutation detection. Results & Conclusion: Most of the cases in BRCA mutant group had high histological grade. No male case was found in BRCA1 mutant group whereas in BRCA2 mutant group. Out of 4 cases, one was male patient. In BRCA2 mutant group only mis-sense type of mutation was found whereas in BRCA1 group frame shift mutation, non-sense mutation and mis-sense mutation found.