Association of CCND1 (c.723G > A, rs9344) variant with elevated risk of breast carcinoma: a retrospective
Mohamed Adel El-Eshmawy1, Hanaa Elsayed Shahin2,3, Nanis S El-Beltagy4
1Clinical Pathology Department, Mansoura University Hospital, Mansoura University, Mansoura, Egypt.
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.
