Genetic polymorphisms of ESR1, ESR2, CYP17A1, and CYP19A1 and the risk of breast cancer: a case control study from North India

Estrogen is a key driver of breast cancer and genes involved in its signaling and biosynthesis are crucial in breast cancer progression. In this study, we investigated the role of estrogen signaling and synthesis related genes polymorphism in susceptibility to breast cancer risk in North India popul...

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Bibliographic Details
Published in:Tumor biology 2014-05, Vol.35 (5), p.4517-4527
Main Authors: Chattopadhyay, Shilpi, Siddiqui, Sarah, Akhtar, Md. Salman, Najm, Mohammad Zeeshan, Deo, S. V. S., Shukla, N. K., Husain, Syed Akhtar
Format: Article
Language:English
Subjects:
Adult
Aged
Aromatase - genetics
Biomedical and Life Sciences
Biomedicine
Breast cancer
Breast Neoplasms - etiology
Breast Neoplasms - genetics
Cancer Research
Case studies
Case-Control Studies
Estrogen Receptor alpha - genetics
Estrogen Receptor beta - genetics
Female
Genetic Predisposition to Disease
Genetics
Health risk assessment
Humans
India
Middle Aged
Polymorphism
Polymorphism, Single Nucleotide
Research Article
Risk
Steroid 17-alpha-Hydroxylase - genetics
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Summary:Estrogen is a key driver of breast cancer and genes involved in its signaling and biosynthesis are crucial in breast cancer progression. In this study, we investigated the role of estrogen signaling and synthesis related genes polymorphism in susceptibility to breast cancer risk in North India population in a case–control approach. We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2234693) and ESR2 (rs2987983); estrogen biosynthesis enzymes, CYP17A1 (rs743572); and aromatase, CYP19A1 (rs700519) with breast cancer risk. Cases ( n  = 360) were matched to controls ( n  = 360) by age, sex, ethnicity, and geographical location. Results provided evidence that all the genetic variants were significantly associated with breast cancer risk among North Indian women. Furthermore, on performing stratified analysis between breast cancer risk and different clinicopathological characteristics, we observed strong associations for menopausal status, estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) status, clinical stage, and histological grade. Our results suggest that these genes could be used as molecular markers to assess breast cancer susceptibility and predicting prognosis in North India population.
ISSN:1010-4283
1423-0380
DOI:10.1007/s13277-013-1594-1