CORRELATION OF GENOMIC INDICATORS WITH HORMONE RECEPTOR STATUS IN BREAST CANCER IN THE INDIAN POPULATION DATASET
Genomic Indicators in Indian Breast Cancer
DOI:
https://doi.org/10.55766/sujst9547Keywords:
Breast Cancer, Correlation, Genomic Indicators, Hormone Receptor Status, Indian Population, Precision MedicineAbstract
Breast cancer is a highly heterogeneous disease characterized by gene alterations and changing hormone levels. Breast cancer require hormones to grow, which act through specific receptors on tumour cell surface such as estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). Based on the receptor status, breast cancer can be classified into ER-positive tumours and ER-negative tumours, PR-positive tumours and PR-negative tumours and HER2-positive tumours and HER2-negative tumours. Understanding the relationship between genomic indicators and hormone receptor status is crucial for improving diagnosis, prognosis, and personalized treatment strategies. This study investigates the correlation between key genomic alterations and hormone receptor status in breast cancer patients from the Indian population. With the help of genomic data derived from tumour samples, we analysed mutation frequencies and mutation patterns across 11 genomic indicators-ESR1 (Estrogen Receptor 1), CDH1 (Cadherin 1), TP53(Tumour Protein p53), CCND1(Cyclin D1), PIK3CA(Phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit alpha), PTEN(Phosphatase and Tensin Homolog), GATA3(GATA Binding Protein 3), ERBB2(Erb-B2 Receptor Tyrosine Kinase 2 (also known as HER2)), FGFR1(Fibroblast Growth Factor Receptor 1), FOXA1(Forkhead Box A1) and NF1(Neurofibromin 1), and also evaluated their association with hormone receptor expression. It is observed that genes TP53, PTEN, ERBB2 and FOXA1 have overall high mutation frequency in all three ER, PR and HER2 positive breast cancer tumour samples. TP53 mutations were observed in overall 66% samples. PTEN mutations were observed in 63% overall samples. ERBB2 mutations were observed in 57% overall samples and FOXA1 mutations were observed in 48% overall samples. This study highlights the utility of 11 genomic biomarkers in guiding personalized therapy to Indian breast cancer patients.
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