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

Mohamed Adel El-Eshmawy; Hanaa Elsayed Shahin; Nanis S El-Beltagy; Dina Abdel Hamid; Ola M Elfarargy; Dalia Hamouda Elsayed; Afaf M Elsaid; Rami M Elshazli; Noura M Mohamed

doi:10.1007/s11033-022-08202-6

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

Mol Biol Rep. 2023 Mar;50(3):2015-2024. doi: 10.1007/s11033-022-08202-6. Epub 2022 Dec 19.

Authors

Affiliations

¹ Clinical Pathology Department, Mansoura University Hospital, Mansoura University, Mansoura, Egypt.
² Nursing Department, College of Applied Medial Sciences, Jouf University, ElQurayyat, Saudi Arabia.
³ Department of Maternity and Newborn Health Nursing, Menoufia University, Menoufia, Egypt.
⁴ Faculty of Medicine, Children's University Hospital, Mansoura University, Mansoura, Egypt.
⁵ Hematology and Bone Marrow Transplant Unit, Children's University Hospital, Mansoura University, Mansoura, Egypt.
⁶ Department of Medical Oncology, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
⁷ Genetic Unit, Children's University Hospital, Mansoura University, Mansoura, Egypt.
⁸ Biochemistry and Molecular Genetics Unit, Department of Basic Sciences, Faculty of Physical Therapy, Horus University - Egypt, New Damietta, Egypt. Relshazly@horus.edu.eg.
⁹ Department of Medical Biochemistry, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
¹⁰ Department of Science, Faculty of Preparatory Year of Health Sciences, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia.

PMID: 36534235
DOI: 10.1007/s11033-022-08202-6

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.

Keywords: CCND1; Genetic variant and Breast carcinoma; rs9344.

MeSH terms

Breast Neoplasms* / epidemiology
Breast Neoplasms* / genetics
Case-Control Studies
Cyclin D1 / genetics
Female
Genetic Predisposition to Disease
Genotype
Humans
Polymorphism, Single Nucleotide* / genetics
Retrospective Studies

Substances

CCND1 protein, human
Cyclin D1

Supplementary concepts

Egyptian people