• Haleema Sadia

• Mukhtar Ullah

• Asma Irshad

• Kausar Malik

• Waqas Ahmad

• Rais Ahmed

• Muhammad Umer Khan

• Sana Ashiq

• Ali Akbar

• Atta-ur Rehman

• Shahid Raza

• Kashif Iqbal Sahibzada

Abstract

Background: Breast cancer is a multifactorial disease that is influenced by many genes-environment and gene-gene interactions. It emerges due to the perturbations in the tumor suppressor genes. One of these genes is TP53. The TP53 gene plays a crucial role in regulating normal cell proliferation. However, this gene is commonly mutated in different human cancers. Methods: In the current study, we determined the role of TP53 mutation in breast cancer in the Punjabi ethnic group/patients of Pakistan. This study was undertaken to determine mutation in the hotspot region of TP53 in breast cancer patients. A total of 30 modified radical mastectomies (MRM) tissue biopsies were collected from different hospitals located in Lahore city of Pakistan. Histopathological analysis was performed to determine the cancer type, stage and grade followed by DNA extraction and sequencing to evaluate mutation in the hotspot region of TP53 gene. Sequencing data was visualized with Bio-edit 7.2.5 and chromas. Results: According to the Nottingham scoring system 70% patients have grade 3 tumors, followed by grade 2 (23%), grade 4 (6%) and grade-1 (3%). Sanger sequencing analysis of exon 5-9 of TP53 show no mutation. However, many noise mutations were there, which are discussed in detail. This study also shed light that how a genetic analyzer’s results can be correctly analyzed and to avoid false reporting of any mutation which could be a disaster for mis diagnosis of disease. Besides this, a new recipe with very low volume for sequencing PCR ingredients was introduced which could reduce the cost of sequencing. Conclusion: The present study suggests that there might be no correlation between TP53 exon 5-9 mutation and breast cancer in the Punjabi ethnic group of Pakistan. However, more studies are required to investigate mutation in the other exons of TP53 gene in large patients’ cohort.

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