Genetic architecture of mammographic density as a risk factor for breast cancer: a systematic review
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Asma Khorshid Shamshiri [1] ; Maryam Alidoust [1] ; Mahboubeh Hemmati Nokandei [1] ; Alireza Pasdar [1] ; Fahimeh Afzaljavan [1]
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[1] Mashhad University of Medical Sciences
Mashhad University of Medical Sciences
Irán
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- Localización: Clinical & translational oncology, ISSN 1699-048X, Vol. 25, Nº. 6, 2023, págs. 1729-1747
- Idioma: inglés
- Texto completo no disponible (Saber más ...)
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Resumen
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.
