Gene expression signatures of individual ductal carcinoma in situ lesions identify processes and biomarkers associated with progression towards invasive ductal carcinoma

Clare A. Rebbeck (), Jian Xian, Susanne Bornelöv, Joseph Geradts, Amy Hobeika, Heather Geiger, Jose Franco Alvarez, Elena Rozhkova, Ashley Nicholls, Nicolas Robine, Herbert K. Lyerly () and Gregory J. Hannon ()
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Clare A. Rebbeck: University of Cambridge
Jian Xian: University of Cambridge
Susanne Bornelöv: University of Cambridge
Joseph Geradts: East Carolina University Brody School of Medicine
Amy Hobeika: Duke University Medical Center
Heather Geiger: New York Genome Center
Jose Franco Alvarez: University of Cambridge
Elena Rozhkova: Boston University School of Medicine
Ashley Nicholls: University of Cambridge
Nicolas Robine: New York Genome Center
Herbert K. Lyerly: Duke University Medical Center
Gregory J. Hannon: University of Cambridge

Nature Communications, 2022, vol. 13, issue 1, 1-14

Abstract: Abstract Ductal carcinoma in situ (DCIS) is considered a non-invasive precursor to breast cancer, and although associated with an increased risk of developing invasive disease, many women with DCIS will never progress beyond their in situ diagnosis. The path from normal duct to invasive ductal carcinoma (IDC) is not well understood, and efforts to do so are hampered by the substantial heterogeneity that exists between patients, and even within patients. Here we show gene expression analysis from > 2,000 individually micro-dissected ductal lesions representing 145 patients. Combining all samples into one continuous trajectory we show there is a progressive loss in basal layer integrity heading towards IDC, coupled with two epithelial to mesenchymal transitions, one early and a second coinciding with the convergence of DCIS and IDC expression profiles. We identify early processes and potential biomarkers, including CAMK2N1, MNX1, ADCY5, HOXC11 and ANKRD22, whose reduced expression is associated with the progression of DCIS to invasive breast cancer.

Date: 2022
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DOI: 10.1038/s41467-022-30573-4

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