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Association of CCND1 (c.723G > A, rs9344) variant with elevated risk of breast carcinoma: a retrospective case–control study

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Abstract

Background

The prevalence rate of breast carcinoma (BC) among multiple ethnic populations required more explanations to understand the pathogenesis mechanisms for the development of this type of cancer. The principal purpose of this work is to validate the correlation of the CCND1 (c.723G > A; rs9344) variant with an increased risk of breast carcinoma.

Methods

This retrospective case-controlled study was designed appertaining to 200 women including 100 BC patients and 100 unrelated cancer-free controls. The amplification of genomic DNA was genotyped utilizing the PCR-RFLP technique.

Results

The frequencies of the CCND1 (c.723G > A; rs9344) variant revealed a significant association with increased risk of breast carcinoma under different genetic models including allelic (OR = 2.84, P-value < 0.001), recessive (OR = 4.83, P-value < 0.001), and dominant (OR = 3.19, P-value < 0.001) models.

Conclusions

Our findings concluded that the genetic biomarker of the CCND1 (c.723G > A; rs9344) variant is correlated with an elevated risk of breast carcinoma among Egyptian women.

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Data availability

The dataset utilized in the formulation of this current work will be available from the corresponding author upon reasonable request.

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Funding

The authors have not disclosed any funding.

Author information

Authors and Affiliations

  1. Clinical Pathology Department, Mansoura University Hospital, Mansoura University, Mansoura, Egypt

    Mohamed Adel El-Eshmawy

  2. Nursing Department, College of Applied Medial Sciences, Jouf University, ElQurayyat, Saudi Arabia

    Hanaa Elsayed Shahin

  3. Department of Maternity and Newborn Health Nursing, Menoufia University, Menoufia, Egypt

    Hanaa Elsayed Shahin

  4. Faculty of Medicine, Children’s University Hospital, Mansoura University, Mansoura, Egypt

    Nanis S. El-Beltagy

  5. Hematology and Bone Marrow Transplant Unit, Children’s University Hospital, Mansoura University, Mansoura, Egypt

    Dina Abdel Hamid

  6. Department of Medical Oncology, Faculty of Medicine, Zagazig University, Zagazig, Egypt

    Ola M. Elfarargy & Dalia Hamouda Elsayed

  7. Genetic Unit, Children’s University Hospital, Mansoura University, Mansoura, Egypt

    Afaf M. Elsaid

  8. Biochemistry and Molecular Genetics Unit, Department of Basic Sciences, Faculty of Physical Therapy, Horus University - Egypt, New Damietta, Egypt

    Rami M. Elshazli

  9. Department of Medical Biochemistry, Faculty of Medicine, Zagazig University, Zagazig, Egypt

    Noura M. Mohamed

  10. Department of Science, Faculty of Preparatory Year of Health Sciences, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia

    Noura M. Mohamed

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  1. Mohamed Adel El-Eshmawy
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  2. Hanaa Elsayed Shahin
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Contributions

MAE-E: Conceptualization, Methodology, Investigation, Writing – review & editing, Supervision. HES: Data curation, Formal analysis, Validation, Writing – review & editing. NSE-B: Formal analysis, Methodology, Writing – original draft, Data curation. DAH: Methodology, Formal analysis, Data curation. OME: Methodology, Formal analysis, Visualization. DHE: Methodology, Formal analysis, Visualization, Data curation. AME: Methodology, Formal analysis. RME: Project administration, Conceptualization, Methodology, Software, Formal analysis, Data curation, Validation, Investigation, Writing – review & editing. NMM: Methodology, Formal analysis, Data curation.

Corresponding author

Correspondence to Rami M. Elshazli.

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El-Eshmawy, M.A., Shahin, H.E., El-Beltagy, N.S. et al. Association of CCND1 (c.723G > A, rs9344) variant with elevated risk of breast carcinoma: a retrospective case–control study. Mol Biol Rep 50, 2015–2024 (2023). https://doi.org/10.1007/s11033-022-08202-6

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