BREAST CANCER PATIENTS;

Abstract

Objective: Genetic factors contribute to the high rates with breast cancer patients. Our objective was to screen themutations in the BRCA 1 gene in exon 20. Design: A diagnostic study. Place and Duration of Study: The study was carried out inmolecular biology lab, Department of Zoology, GC University Lahore and Institute of Molecular Biology and Biotechnology (IMBB),University of Lahore over a period of one year from July 2011 to Aug 2012. Patients and Methods: To screen for mutation in the BRCA1gene, blood samples were collected from 22 different patients suffering from breast cancer from the Anmol Hospital and Sir Ganga RamHospital Lahore. The collected samples were processed to screen any mutation in exon 20 which is indicative of the fact that exon 20 isnot a hotspot for mutations. Results: In our study of 22 females, we have found no mutation in the gene. It is becoming increasingly clearthat breast cancer is a multifaceted and heterogeneous disease and histopathological characteristics of breast cancer are controlled bysubsets of genetic alterations, providing convincing hints of genotypic–phenotypic correlations between morphological patterns andmolecular changes. BRCA has emerged as the master regulator of the genome through its ability to regulate and coordinate various stepsof DNA damage response. Women who carry a mutation of the gene have greatly increased chance of developing breast cancer. Thepopulation of Pakistan has been substantially screened for somatic and germline mutations in BRCA. Conclusions: Breast cancer is themost common cancer of women in Pakistan. One every 8th women is found to carry the disease. A female may develop the diseasethrough inherited mutations in the BRCA1 gene. The absence of mutation maybe attributed to small sample size of the study or may be dueto the fact that the size of the gene is so large that a single axon may not be enough to screen for mutations.