title: Copy number analysis of ductal carcinoma in situ with and without recurrence.
abstract: Ductal carcinoma in situ (DCIS) is a non-obligate precursor of invasive breast cancer and a frequent mammographic finding requiring treatment. Up to 25% of DCIS can recur and half of recurrences are invasive, but there are no reliable biomarkers for recurrence. We hypothesised that copy number aberrations could predict likelihood of recurrence. We analysed a cohort of pure DCIS cases treated only with wide local excision for genome-wide copy number and loss of heterozygosity using Affymetrix OncoScan MIP arrays. Cases included those without recurrence within 7 years (n = 25) and with recurrence between 1 and 5 years after diagnosis (n = 15). Pure DCIS were broadly similar in copy number changes compared with invasive breast cancer, with the consistent exception of a greater frequency of ERBB2 amplification in DCIS. There were no significant differences in age or ER status between the cases with a recurrence vs those without. Overall, the DCIS cases with recurrence had more copy number events than the DCIS without recurrence. The increased copy number appeared non-random with several genomic regions showing an increase in frequency in recurrent cases, including 20 q gain, ERBB2 amplification and 15q loss. Copy number changes may provide prognostic information for DCIS recurrence, but validation in additional cohorts is required.
authors: Cancer Genetics Laboratory, Peter MacCullum Cancer Centre, East Melbourne, VIC, Australia.|Department of Pathology, University of Melbourne, Melbourne, VIC, Australia.|The Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia.
authors: Kylie L
authors: http://orcid.org/0000-0001-5681-2022
authors: KL
authors: Gorringe
authors: Cancer Genetics Laboratory, Peter MacCullum Cancer Centre, East Melbourne, VIC, Australia.
authors: Sally M
authors: SM
authors: Hunter
authors: Department of Pathology, Peter MacCallum Cancer Centre, East Melbourne, VIC, Australia.
authors: Jia-Min
authors: JM
authors: Pang
authors: Department of Anatomical Pathology, St Vincent's Hospital, Fitzroy, VIC, Australia.
authors: Ken
authors: K
authors: Opeskin
authors: Department of Anatomical Pathology, St Vincent's Hospital, Fitzroy, VIC, Australia.
authors: Prue
authors: P
authors: Hill
authors: Cancer Genetics Laboratory, Peter MacCullum Cancer Centre, East Melbourne, VIC, Australia.
authors: Simone M
authors: SM
authors: Rowley
authors: Cancer Genetics Laboratory, Peter MacCullum Cancer Centre, East Melbourne, VIC, Australia.
authors: David Y H
authors: DY
authors: Choong
authors: Cancer Genetics Laboratory, Peter MacCullum Cancer Centre, East Melbourne, VIC, Australia.|Department of Pathology, University of Melbourne, Melbourne, VIC, Australia.|The Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia.
authors: Ella R
authors: ER
authors: Thompson
authors: Department of Pathology, University of Melbourne, Melbourne, VIC, Australia.|Translational Genomics and Epigenomics Laboratory, Olivia Newton John Cancer Research Institute, Heidelberg, VIC, Australia.|School of Cancer Medicine, La Trobe University, Bundoora, VIC, Australia.
authors: Alexander
authors: A
authors: Dobrovic
authors: Department of Pathology, Peter MacCallum Cancer Centre, East Melbourne, VIC, Australia.
authors: Stephen B
authors: SB
authors: Fox
authors: Department of Surgery, University of Melbourne, Melbourne, VIC, Australia.|The Royal Melbourne and Royal Women's Hospitals, Parkville, VIC, Australia.
authors: G Bruce
authors: GB
authors: Mann
authors: Cancer Genetics Laboratory, Peter MacCullum Cancer Centre, East Melbourne, VIC, Australia.|Department of Pathology, University of Melbourne, Melbourne, VIC, Australia.|The Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia.
authors: Ian G
authors: IG
authors: Campbell
mesh_terms: D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D002285:Carcinoma, Intraductal, Noninfiltrating / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D009364:Neoplasm Recurrence, Local / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D016133:Polymerase Chain Reaction