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Publications of the Week

Aneuploidy and a Deregulated DNA Damage Response Suggest Haploinsufficiency in Breast Tissues of BRCA2 Mutation Carriers

By February 11, 2020No Comments

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This week we profile a recent publication in Science Advances from Dr. Leif Ellisen‘s laboratory (Pictured) at Massachusetts General Hospital.

Can you provide a brief overview of your lab’s current research focus?

Our research is focused on identifying genetic abnormalities in cancer cells, understanding how these changes influence the early development and progression of cancer, and discovering how this biology can inform selection of the best therapy for each patient. With a particular focus on breast cancer and hereditary cancer, our laboratory specializes in work at the interface between basic tumor biology and therapeutic application.

What is the significance of the findings in this publication?

Our findings suggest that for women with BRCA2 (and likely BRCA1) mutations, the breast tissues have substantial genetic damage and altered cell signaling that are already present even before any pre-cancerous changes can be seen on routine pathology evaluation. This finding suggests that the breast cells already have a signaling and/or repair defect (that leads to the cell damage), and this defect is likely linked to some kind of susceptibility of these cells.

What are the next steps for this research?

Understanding the molecular details of the defect and associated susceptibility in pre-cancerous BRCA1/2 heterozygous cells is the subject of our ongoing research. We think it will lead us to more sensitive methods for detecting these breast cancers, and most importantly, more effective ways to prevent these cancers without women having to undergo surgery.

If you’d like us to mention your funding sources, please list them.

We are very grateful to all the women who participated in this study by giving consent to analyze their tissues. We also gratefully acknowledge all the funding agencies who supported this work.

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