TARGETED GENE TESTING IN ONCOLOGY: UNLOCKING PRECISION MEDICINE FOR BRCA1/2 MUTATIONS
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Keywords
BRCA1, Breast cancer, Oncogenes, Tumor suppressor genes, Somatic mutations, Exons, Whole exome sequencing
Abstract
This study investigates the expression profiles of BRCA1 and BRCA2 genes in hereditary breast cancer patients, highlighting their diagnostic, prognostic, and therapeutic significance. Peripheral blood samples were collected from 150 participants, including 90 patients with a familial history of breast cancer and 60 healthy controls. Using quantitative real-time PCR (qRT-PCR), we quantified BRCA1/2 mRNA levels and assessed their correlation with clinical features such as tumor grade, stage, and response to therapy. Results revealed a significant downregulation of BRCA1/2 expression in mutation carriers compared to non-carriers and controls, correlating with higher tumor aggressiveness and poorer prognosis. These findings suggest that BRCA1/2 expression profiling could serve as a reliable biomarker for risk stratification, early detection, and treatment optimization in hereditary breast cancer. Further exploration of gene expression dynamics may pave the way for personalized management strategies.
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
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Muhammad Farhan Mukhtar
Department of Microbiology and Molecular Genetics, Bahauddin Zakariya University, Multan, Pakistan
Kiran Jamal
Department of Biotechnology, Quaid-i-Azam University Islamabad, Pakistan
Beenish Fatima
Department of pathology, Shalimar medical and dental college, Lahore, Pakistan
Asghar Ali Shaikh
Department of Biochemistry, Government College University, Hyderabad, Pakistan
Mohammed Faisal
Department of pathology, Shalimar medical and dental college, Lahore, Pakistan
Mehroosh Shakeel
Department of pathology, Fatima Memorial Hospital College of Medicine & Dentistry, Lahore, Pakistan
Saleem Ahmad
Ikram Ul Haq Institute of Industrial Biotechnology, Government College University Lahore, Pakistan.
Muhammad Raheel
Department of Zoology, University of Malakand, Pakistan
Rizwanullah
Department of Zoology, University of Malakand, Pakistan,