title: Appraisal of the technologies and review of the genomic landscape of ductal carcinoma in situ of the breast.
abstract: Ductal carcinoma in situ is a biologically diverse entity. Whereas some lesions are cured by local surgical excision, others recur as in situ disease or progress to invasive carcinoma with subsequent potential for metastatic spread. Reliable prognostic biomarkers are therefore desirable for appropriate clinical management but remain elusive. In common with invasive breast cancer, ductal carcinoma in situ exhibits many genomic changes, predominantly copy number alterations. Although studies have revealed the genomic heterogeneity within individual ductal carcinoma in situ lesions and the association of certain copy number alterations with nuclear grade, none of the genomic changes defined so far is consistently associated with invasive transformation or recurrence risk in pure ductal carcinoma in situ. This article will review the current landscape of genomic alterations in ductal carcinoma in situ and their potential as prognostic biomarkers together with the technologies used to define these.
authors.affiliation: Department of Pathology, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, VIC, 3002, Australia. jia-min.pang@petermac.org.|Department of Pathology, University of Melbourne, Grattan Street, Parkville, Melbourne, VIC, 3010, Australia. jia-min.pang@petermac.org.
authors.forename: Jia-Min B
authors.initials: JM
authors.lastname: Pang
authors.affiliation: Department of Pathology, University of Melbourne, Grattan Street, Parkville, Melbourne, VIC, 3010, Australia. kylie.gorringe@petermac.org.|Sir Peter MacCallum Department of Oncology, University of Melbourne, Grattan Street, Parkville, Melbourne, VIC, 3010, Australia. kylie.gorringe@petermac.org.|Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, VIC, 3002, Australia. kylie.gorringe@petermac.org.
authors.forename: Kylie L
authors.initials: KL
authors.lastname: Gorringe
authors.affiliation: Department of Pathology, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, VIC, 3002, Australia. stephen.wong@petermac.org.|Translational Research Laboratory, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, VIC, 3002, Australia. stephen.wong@petermac.org.
authors.forename: Stephen Q
authors.initials: SQ
authors.lastname: Wong
authors.affiliation: Department of Pathology, University of Melbourne, Grattan Street, Parkville, Melbourne, VIC, 3010, Australia. Alex.Dobrovic@onjcri.org.au.|Translational Genomics & Epigenomics Laboratory, Olivia Newton-John Cancer Research Institute, Studley Road, Heidelberg, VIC, 3084, Australia. Alex.Dobrovic@onjcri.org.au.
authors.forename: Alexander
authors.initials: A
authors.lastname: Dobrovic
authors.affiliation: Department of Pathology, University of Melbourne, Grattan Street, Parkville, Melbourne, VIC, 3010, Australia. ian.campbell@petermac.org.|Sir Peter MacCallum Department of Oncology, University of Melbourne, Grattan Street, Parkville, Melbourne, VIC, 3010, Australia. ian.campbell@petermac.org.|Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, VIC, 3002, Australia. ian.campbell@petermac.org.
authors.forename: Ian G
authors.initials: IG
authors.lastname: Campbell
authors.affiliation: Department of Pathology, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, VIC, 3002, Australia. stephen.fox@petermac.org.|Department of Pathology, University of Melbourne, Grattan Street, Parkville, Melbourne, VIC, 3010, Australia. stephen.fox@petermac.org.|Sir Peter MacCallum Department of Oncology, University of Melbourne, Grattan Street, Parkville, Melbourne, VIC, 3010, Australia. stephen.fox@petermac.org.
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Fox
mesh_terms: D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D002285:Carcinoma, Intraductal, Noninfiltrating / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D056915:DNA Copy Number Variations; D005260:Female; D023281:Genomics; D006801:Humans; D009154:Mutation; D060787:Neoplasm Grading; D009367:Neoplasm Staging