Middle East Journal of Cancer

Breast Cancer Susceptibility Genes in Estrogen Receptor Signaling Pathway in a Southern Indian Population

Document Type : Original Article(s)

Authors

Andrea Mary F 1
Devi Krishna RB 1
Nandini Krishnamurthy 1
Sanjana Murali 1
Ramya R 2
Nalini Ganesan 3
Solomon FD Paul 1

1 Department of Human Genetics, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India

2 Department of Surgery, Apollo Institute of Medical Sciences and Research, Chittor, Andhra Pradesh, India

3 Department of Biochemistry, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India

https://doi.org/10.30476/mejc.2026.104819.2208
Abstract
Background: Ovarian cancer starts in the ovaries and is hard to detect early due to vague symptoms. The present study aimed to investigate whether the ESR1 gene is linked to breast cancer. Also, we aimed to examine whether genetic changes in the ESR1 gene affect breast cancer risk through estrogen binding.
Method: A hospital‑based case–control study was conducted with 200 breast cancer patients and 200 age‑matched healthy controls. Peripheral blood samples were collected, and genomic DNA was extracted using standard protocols. ESR1 gene variants were genotyped by real‑time polymerase chain reaction. Allele and genotype frequencies were compared, and risk was estimated by statically.
Results: The C/C genotype of the PvuII site in the ESR1 gene showed a significant link to breast cancer risk. No association was found for the AG/GG genotype of theXbaI polymorphism. The TG and GG genotypes of rs2881766 showed a weak risk increase.
Conclusion: The rs2234693 variation is linked to breast cancer risk, suggesting its potential for genetic screening and personalized therapy. No significant link was found for other variations, highlighting rs2234693 for future research.

Highlights

Andrea Mary F (google scholar)

Devi Krishna RB (google scholar)

Keywords

Breast neoplasm
Estrogen receptor
Polymorphism
Genetic
Genotype
Subjects

How to cite this article:

Mary F A, Krishna RB D, Krishnamurthy N, Murali S, R R, Ganesan N. B, Paul S FD. Breast cancer susceptibility genes in estrogen receptor signaling pathway in a southern indian population. Middle East J Cancer. 2026; 17(3): 272-83. doi:10.30476/mejc.2026.104819.2208.

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