BREAST CANCER PATIENTS;

Identification of mutation(s) in BRCA1 gene

Abstract

Objective: Genetic factors contribute to the high rates with breast cancer patients. Our objective was to screen the
mutations in the BRCA 1 gene in exon 20. Design: A diagnostic study. Place and Duration of Study: The study was carried out in
molecular 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 BRCA1
gene, blood samples were collected from 22 different patients suffering from breast cancer from the Anmol Hospital and Sir Ganga Ram
Hospital Lahore. The collected samples were processed to screen any mutation in exon 20 which is indicative of the fact that exon 20 is
not a hotspot for mutations. Results: In our study of 22 females, we have found no mutation in the gene. It is becoming increasingly clear
that breast cancer is a multifaceted and heterogeneous disease and histopathological characteristics of breast cancer are controlled by
subsets of genetic alterations, providing convincing hints of genotypic–phenotypic correlations between morphological patterns and
molecular changes. BRCA has emerged as the master regulator of the genome through its ability to regulate and coordinate various steps
of DNA damage response. Women who carry a mutation of the gene have greatly increased chance of developing breast cancer. The
population of Pakistan has been substantially screened for somatic and germline mutations in BRCA. Conclusions: Breast cancer is the
most common cancer of women in Pakistan. One every 8th women is found to carry the disease. A female may develop the disease
through inherited mutations in the BRCA1 gene. The absence of mutation maybe attributed to small sample size of the study or may be due
to the fact that the size of the gene is so large that a single axon may not be enough to screen for mutations.