Breast ductal carcinoma in situ carry mutational driver events representative of invasive breast cancer
Jia-Min B Pang, Peter Savas, Andrew P Fellowes, Gisela Mir Arnau, Tanjina Kader, Ravikiran Vedururu, Chelsee Hewitt, Elena A Takano, David J Byrne, David YH hoong, Ewan KA Millar, C Soon Lee, Sandra A O'Toole, Sunil R Lakhani, Margaret C Cummings, G Bruce Mann, Ian G Campbell, Alexander Dobrovic, Sherene Loi, Kylie L Gorringe Show all
MODERN PATHOLOGY | NATURE PUBLISHING GROUP | Published : 2017
The spectrum of genomic alterations in ductal carcinoma in situ (DCIS) is relatively unexplored, but is likely to provide useful insights into its biology, its progression to invasive carcinoma and the risk of recurrence. DCIS (n=20) with a range of phenotypes was assessed by massively parallel sequencing for mutations and copy number alterations and variants validated by Sanger sequencing. PIK3CA mutations were identified in 11/20 (55%), TP53 mutations in 6/20 (30%), and GATA3 mutations in 9/20 (45%). Screening an additional 91 cases for GATA3 mutations identified a final frequency of 27% (30/111), with a high proportion of missense variants (8/30). TP53 mutations were exclusive to high gra..View full abstract
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Awarded by Australian National Health and Medical Research Council
Awarded by National Breast Cancer Foundation
This study was supported by the Australian National Health and Medical Research Council (ID #50950, #566603, and APP1063092) and the National Breast Cancer Foundation (NBCF). TK was supported by a Melbourne University International Scholarship. We thank Dr Siobhan Hughes for technical assistance.