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William J. Gradishar, MD, FACP, FASCO

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Harvard Researchers Identify Molecular Trigger Behind Certain Types of Breast Cancer

By: Lauren Velentzas
Posted: Thursday, June 22, 2023

In a study published in Nature, Jake June-Koo Lee, MD, PhD, and Peter J. Park, PhD, of Harvard Medical School, Boston, and colleagues identified a mechanism that may trigger up to one-third of breast cancer cases. The mechanism, which the study authors call translocation-bridge amplification, contained two different chromosomes, rather than the usual one that may result in the multiplication of cancer genes. In an analysis of 780 breast cancer genomes, 244 were found to contain this translocation-bridge amplification pattern.

What’s more, the research suggests that estrogen may play a more direct role in some types of breast cancer than previously believed. In the genomes with this mechanism, hotspots correlated with estrogen receptor binding areas within the DNA, which may be contributing to oncogenesis by inducing DNA double-strand breaks and through TB amplification. “Our work demonstrates that estrogen can directly induce genomic rearrangements that lead to cancer, so its role in breast cancer development is both that of a catalyst and a cause,” commented Dr. Lee in a Harvard Medical School press release by Ekaterina Pesheva.

“In light of our results, we propose that [estrogen-suppressing] drugs may also prevent estrogen from initiating cancer-causing genomic rearrangements in the cells, in addition to suppressing mammary cell proliferation,” Dr. Lee said in a Harvard Medical School press release. He added that the detection of the genomic fingerprint of the chromosome rearrangement may help in breast cancer testing for patients at risk of relapsing.

Disclosure: For full disclosures of the study authors, visit nature.com.


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