Journal article

The genetic architecture of breast papillary lesions as a predictor of progression to carcinoma

Tanjina Kader, Kenneth Elder, Magnus Zethoven, Timothy Semple, Prue Hill, David L Goode, Niko Thio, Dane Cheasley, Simone M Rowley, David J Byrne, Jia-Min Pang, Islam M Miligy, Andrew R Green, Emad A Rakha, Stephen B Fox, G Bruce Mann, Ian G Campbell, Kylie L Gorringe

npj Breast Cancer | NATURE PUBLISHING GROUP | Published : 2020

Abstract

Intraductal papillomas (IDP) are challenging breast findings because of their variable risk of progression to malignancy. The molecular events driving IDP development and genomic features of malignant progression are poorly understood. In this study, genome-wide CNA and/or targeted mutation analysis was performed on 44 cases of IDP, of which 20 cases had coexisting ductal carcinoma in situ (DCIS), papillary DCIS or invasive ductal carcinoma (IDC). CNA were rare in pure IDP, but 69% carried an activating PIK3CA mutation. Among the synchronous IDP cases, 55% (11/20) were clonally related to the synchronous DCIS and/or IDC, only one of which had papillary histology. In contrast to pure IDP, PIK..

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Grants

Awarded by Australian National Health and Medical Research Council


Funding Acknowledgements

This study was funded by the Australian National Health and Medical Research Council (APP1063092) and supported by the Peter MacCallum Cancer Foundation. TK was supported by a University of Melbourne International Research Scholarship. KLG supported by a Victorian Cancer Agency Mid-Career Fellowship and Union for International Cancer Control Yamagiwa Yoshida Memorial International Study Grant. We thank the Peter MacCallum Cancer Centre Bioinformatics and Molecular Genomics core facilities, which were supported by the Australian Cancer Research Foundation. We also thank A/P Ken Opeskin from the Department of Anatomical Pathology, St. Vincent's Hospital for the assessment of lesions and Maria Bisignano from Melbourne Health Pathology Service for coordinating papilloma cases. We thank the Nottingham Health Science Biobank and Breast Cancer Now Tissue Bank for the provision of tissue samples.