Genetics and Epigenetics of Breast Cancer

A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Genetics".

Deadline for manuscript submissions: 31 May 2025 | Viewed by 226

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Department of Pharmaceutical Sciences, Jefferson College of Pharmacy, Thomas Jefferson University, Philadelphia, PA 19107, USA
Interests: breast cancer; tumor suppressor genes; epigenetics; natural products
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Dear Colleagues,

Breast cancer is a complex and multifaceted disease influenced by a combination of genetic and epigenetic factors. Understanding these factors is crucial for developing effective prevention, diagnosis, and treatment strategies. Genetics plays a significant role in breast cancer, with mutations in genes such as BRCA1 and BRCA2 being well-known contributors to hereditary breast cancer. Further, other genes, including TP53, PTEN, BARD1, PALB2, and ATM, contribute to the genetic risk of breast cancer. Epigenetic modifications, such as DNA methylation, histone modification, and non-coding RNA regulation, can also influence the behavior of breast cancer cells and their response to treatment. These changes can be triggered by environmental factors, lifestyle choices, and even aging, adding another layer of complexity to breast cancer biology. The interplay between genetic mutations and epigenetic modifications shapes the risk, onset, and progression of breast cancer. Thus, genetics and epigenetics studies aim to discover new biomarkers for early detection, identify novel therapeutic targets, and ultimately improve patient outcomes.

Dr. Ashakumary Lakshmikuttyamma
Guest Editor

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Keywords

  • breast cancer
  • genetic landscape
  • epigenetics
  • diagnostic/prognostic/predictive biomarkers

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Published Papers (1 paper)

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Research

21 pages, 1865 KiB  
Article
Interaction Between PHF8 and a Segment of KDM2A, Which Is Controlled by the Phosphorylation Status at a Specific Serine in an Intrinsically Disordered Region of KDM2A, Regulates rRNA Transcription and Cell Proliferation in a Breast Cancer Cell Line
by Kengo Okamoto, Yutaro Mihara, Sachiko Ogasawara, Takashi Murakami, Sinya Ohmori, Tetsuya Mori, Toshiyuki Umata, Yuki Kawasaki, Kazuya Hirano, Hirohisa Yano and Makoto Tsuneoka
Biomolecules 2025, 15(5), 661; https://doi.org/10.3390/biom15050661 - 2 May 2025
Abstract
Mild starvation due to low concentrations of an inhibitor of glycolysis, 2-deoxy-D-glucose, activates AMP-activated protein kinase (AMPK) and lysine-specific demethylase 2A (KDM2A) to reduce rRNA transcription and cell proliferation in breast cancer cells. However, the mechanisms of how AMPK regulates KDM2A are unknown. [...] Read more.
Mild starvation due to low concentrations of an inhibitor of glycolysis, 2-deoxy-D-glucose, activates AMP-activated protein kinase (AMPK) and lysine-specific demethylase 2A (KDM2A) to reduce rRNA transcription and cell proliferation in breast cancer cells. However, the mechanisms of how AMPK regulates KDM2A are unknown. Here, we found that PHD finger protein 8 (PHF8) interacted with KDM2A and contributed to the reduction in rRNA transcription and cell proliferation by 2-deoxy-D-glucose in a breast cancer cell line, MCF-7. We analyzed how KDM2A bound PHF8 in detail and found that PHF8 interacted with KDM2A via two regions of KDM2A. One of the regions contained an intrinsically disordered region (IDR). IDRs can show rapidly switchable protein–protein interactions. Deletion of the PHF8-binding region activated KDM2A to reduce rRNA transcription, and 2-deoxy-D-glucose reduced the interaction between PHF8 and the KDM2A fragment containing the PHF8-binding region. A 2-deoxy-D-glucose or AMPK activator dephosphorylated KDM2A at Ser731, which is located on the N-terminal side of the PHF8-binding region. Replacement of Ser731 by Ala decreased binding of PHF8 to the KDM2A fragment that contains the PHF8-binding region and Ser731 and reduced rRNA transcription and cell proliferation. These results suggest that the mode of interaction between KDM2A and PHF8 is regulated via dephosphorylation of KDM2A through AMPK to control rRNA transcription, and control of the phosphorylation state of Ser731 would be a novel target for breast cancer therapy. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Breast Cancer)
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