Related Experiment Video
Updated: Aug 14, 2025
Changes in Mammary Gland Morphology and Breast Cancer Risk in Rats
Published on: October 16, 2010
Genetic architecture of mammographic density as a risk factor for breast cancer: a systematic review
Asma Khorshid Shamshiri1,2, Maryam Alidoust1,2, Mahboubeh Hemmati Nokandei1,2
1Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Background:
Mammography Density (MD) is a potential risk marker that is influenced by genetic polymorphisms and can subsequently modulate the risk of breast cancer. This qualitative systematic review summarizes the genes and biological pathways involved in breast density and discusses the potential clinical implications in view of the genetic risk profile for breast density.
Methods:
The terms related to "Common genetic variations" and "Breast density" were searched in Scopus, PubMed, and Web of Science databases. Gene pathways analysis and assessment of protein interactions were also performed.
Results:
Eighty-six studies including 111 genes, reported a significant association between mammographic density in different populations. ESR1, IGF1, IGFBP3, and ZNF365 were the most prevalent genes. Moreover, estrogen metabolism, signal transduction, and prolactin signaling pathways were significantly related to the associated genes. Mammography density was an associated phenotype, and eight out of 111 genes, including COMT, CYP19A1, CYP1B1, ESR1, IGF1, IGFBP1, IGFBP3, and LSP1, were modifiers of this trait.
Conclusion:
Genes involved in developmental processes and the evolution of secondary sexual traits play an important role in determining mammographic density. Due to the effect of breast tissue density on the risk of breast cancer, these genes may also be associated with breast cancer risk.
