| Autor: |
Deborah Collyar, Abeer M Shaaban, Tapsi Kumar, Mingchu Xu, Angelo Fortunato, Lorraine M. King, Marlous Hoogstraat, Sarah E Pinder, Nicholas N. Navin, Wim Brugman, Andrew Futreal, Maria Roman-Escorza, Marielle Krete, Mathini Sridharan, Alastair M. Thompson, Emi Sei, Anargyros Megalios, Diego Mallo, Jelle Wesseling, Frank Nieboer, Carolina Salinas-Souza, Michael Sheinman, Hilary Stobart, Lodewyk F. A. Wessels, Rana Shami, Ahmed A. Ahmed, Esther H. Lips, Jeffrey R. Marks, Serena Nik-Zainal, Lennart Mulder, Carlo C. Maley, Helen Davies, Salpie Nowinski, Vandna Shah, John Zhang, Karen Clements, Jelmar Quist, Michael Schaapveld, E. Shelley Hwang, Petra Kristel, Elinor J. Sawyer, Anita Grigoriadis, Liping Fu, Marjanka K. Schmidt, Lindy L. Visser, Brian A. Menegaz, Michiel de Maaker, Timothy Hardman |
| Rok vydání: |
2021 |
| Předmět: |
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| DOI: |
10.1101/2021.03.22.21253209 |
| Popis: |
Pure ductal carcinoma in situ (DCIS) is being diagnosed more frequently through breast screening programmes and is associated with an increased risk of developing invasive breast cancer. We assessed the clonal relatedness of 143 cases of pure DCIS and their subsequent events using a combination of whole exome, targeted and copy number sequencing, supplemented by single cell analysis. Unexpectedly, 18% of all invasive events after DCIS were clonally unrelated to the primary DCIS. Single cell sequencing of selected pairs confirmed our findings. In contrast, synchronous DCIS and invasive disease (n=44) were almost always (93%) clonally related. This challenges the dogma that almost all invasive events after DCIS represent invasive transformation of the initial DCIS and suggests that DCIS could be an independent risk factor for developing invasive disease as well as a precursor lesion. Our findings support a paradigm shift that confirms a more complex role for DCIS than previously recognized, and that the future management of DCIS should take into account both the precursor and risk factor implications of this diagnosis. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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