Skip to main content
Top
Published in: Breast Cancer Research 1/2015

Open Access 01-12-2015 | Review

Appraisal of the technologies and review of the genomic landscape of ductal carcinoma in situ of the breast

Authors: Jia-Min B. Pang, Kylie L. Gorringe, Stephen Q. Wong, Alexander Dobrovic, Ian G. Campbell, Stephen B. Fox

Published in: Breast Cancer Research | Issue 1/2015

Login to get access

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.
Literature
1.
go back to reference Early Breast Cancer Trialists’ Collaborative Group (EBCTCG), Correa C, McGale P, Taylor C, Wang Y, Clarke M, et al. Overview of the randomized trials of radiotherapy in ductal carcinoma in situ of the breast. J Natl Cancer Inst Monogr. 2010;2010:162–77.CrossRef Early Breast Cancer Trialists’ Collaborative Group (EBCTCG), Correa C, McGale P, Taylor C, Wang Y, Clarke M, et al. Overview of the randomized trials of radiotherapy in ductal carcinoma in situ of the breast. J Natl Cancer Inst Monogr. 2010;2010:162–77.CrossRef
2.
go back to reference Cuzick J, Sestak I, Pinder SE, Ellis IO, Forsyth S, Bundred NJ, et al. Effect of tamoxifen and radiotherapy in women with locally excised ductal carcinoma in situ: long-term results from the UK/ANZ DCIS trial. Lancet Oncol. 2011;12:21–9.CrossRefPubMed Cuzick J, Sestak I, Pinder SE, Ellis IO, Forsyth S, Bundred NJ, et al. Effect of tamoxifen and radiotherapy in women with locally excised ductal carcinoma in situ: long-term results from the UK/ANZ DCIS trial. Lancet Oncol. 2011;12:21–9.CrossRefPubMed
3.
go back to reference Petrelli F, Barni S. Tamoxifen added to radiotherapy and surgery for the treatment of ductal carcinoma in situ of the breast: a meta-analysis of 2 randomized trials. Radiother Oncol. 2011;100:195–9.CrossRefPubMed Petrelli F, Barni S. Tamoxifen added to radiotherapy and surgery for the treatment of ductal carcinoma in situ of the breast: a meta-analysis of 2 randomized trials. Radiother Oncol. 2011;100:195–9.CrossRefPubMed
4.
go back to reference Independent UK Panel on Breast Cancer Screening. The benefits and harms of breast cancer screening: an independent review. Lancet. 2012;380:1778–86.CrossRef Independent UK Panel on Breast Cancer Screening. The benefits and harms of breast cancer screening: an independent review. Lancet. 2012;380:1778–86.CrossRef
5.
go back to reference Wang SY, Shamliyan T, Virnig BA, Kane R. Tumor characteristics as predictors of local recurrence after treatment of ductal carcinoma in situ: a meta-analysis. Breast Cancer Res Treat. 2011;127:1–14.CrossRefPubMed Wang SY, Shamliyan T, Virnig BA, Kane R. Tumor characteristics as predictors of local recurrence after treatment of ductal carcinoma in situ: a meta-analysis. Breast Cancer Res Treat. 2011;127:1–14.CrossRefPubMed
7.
go back to reference Solin LJ, Gray R, Baehner FL, Butler SM, Hughes LL, Yoshizawa C, et al. A multigene expression assay to predict local recurrence risk for ductal carcinoma in situ of the breast. J Natl Cancer Inst. 2013;105:701–10.CrossRefPubMedPubMedCentral Solin LJ, Gray R, Baehner FL, Butler SM, Hughes LL, Yoshizawa C, et al. A multigene expression assay to predict local recurrence risk for ductal carcinoma in situ of the breast. J Natl Cancer Inst. 2013;105:701–10.CrossRefPubMedPubMedCentral
8.
go back to reference Ciriello G, Miller ML, Aksoy BA, Senbabaoglu Y, Schultz N, Sander C. Emerging landscape of oncogenic signatures across human cancers. Nat Genet. 2013;45:1127–33.CrossRefPubMedPubMedCentral Ciriello G, Miller ML, Aksoy BA, Senbabaoglu Y, Schultz N, Sander C. Emerging landscape of oncogenic signatures across human cancers. Nat Genet. 2013;45:1127–33.CrossRefPubMedPubMedCentral
9.
go back to reference Network CGA. Comprehensive molecular portraits of human breast tumours. Nature. 2012;490:61–70.CrossRef Network CGA. Comprehensive molecular portraits of human breast tumours. Nature. 2012;490:61–70.CrossRef
10.
go back to reference Yost SE, Smith EN, Schwab RB, Bao L, Jung H, Wang X, et al. Identification of high-confidence somatic mutations in whole genome sequence of formalin-fixed breast cancer specimens. Nucleic Acids Res. 2012;40, e107.CrossRefPubMedPubMedCentral Yost SE, Smith EN, Schwab RB, Bao L, Jung H, Wang X, et al. Identification of high-confidence somatic mutations in whole genome sequence of formalin-fixed breast cancer specimens. Nucleic Acids Res. 2012;40, e107.CrossRefPubMedPubMedCentral
11.
go back to reference Hedegaard J, Thorsen K, Lund MK, Hein AM, Hamilton-Dutoit SJ, Vang S, et al. Next-generation sequencing of RNA and DNA isolated from paired fresh-frozen and formalin-fixed paraffin-embedded samples of human cancer and normal tissue. PloS One. 2014;9, e98187.CrossRefPubMedPubMedCentral Hedegaard J, Thorsen K, Lund MK, Hein AM, Hamilton-Dutoit SJ, Vang S, et al. Next-generation sequencing of RNA and DNA isolated from paired fresh-frozen and formalin-fixed paraffin-embedded samples of human cancer and normal tissue. PloS One. 2014;9, e98187.CrossRefPubMedPubMedCentral
12.
go back to reference Wong SQ, Li J, Tan AY, Vedururu R, Pang JM, Do H, et al. Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing. BMC Med Genomics. 2014;7:23.CrossRefPubMedPubMedCentral Wong SQ, Li J, Tan AY, Vedururu R, Pang JM, Do H, et al. Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing. BMC Med Genomics. 2014;7:23.CrossRefPubMedPubMedCentral
13.
go back to reference Do H, Krypuy M, Mitchell PL, Fox SB, Dobrovic A. High resolution melting analysis for rapid and sensitive EGFR and KRAS mutation detection in formalin fixed paraffin embedded biopsies. BMC Cancer. 2008;8:142.CrossRefPubMedPubMedCentral Do H, Krypuy M, Mitchell PL, Fox SB, Dobrovic A. High resolution melting analysis for rapid and sensitive EGFR and KRAS mutation detection in formalin fixed paraffin embedded biopsies. BMC Cancer. 2008;8:142.CrossRefPubMedPubMedCentral
14.
go back to reference Koshiba M, Ogawa K, Hamazaki S, Sugiyama T, Ogawa O, Kitajima T. The effect of formalin fixation on DNA and the extraction of high-molecular-weight DNA from fixed and embedded tissues. Pathol Res Pract. 1993;189:66–72.CrossRefPubMed Koshiba M, Ogawa K, Hamazaki S, Sugiyama T, Ogawa O, Kitajima T. The effect of formalin fixation on DNA and the extraction of high-molecular-weight DNA from fixed and embedded tissues. Pathol Res Pract. 1993;189:66–72.CrossRefPubMed
16.
17.
go back to reference Ceulemans S, van der Ven K, Del-Favero J. Targeted screening and validation of copy number variations. Methods Mol Biol. 2012;838:311–28.CrossRefPubMed Ceulemans S, van der Ven K, Del-Favero J. Targeted screening and validation of copy number variations. Methods Mol Biol. 2012;838:311–28.CrossRefPubMed
18.
go back to reference Hindson BJ, Ness KD, Masquelier DA, Belgrader P, Heredia NJ, Makarewicz AJ, et al. High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem. 2011;83:8604–10.CrossRefPubMedPubMedCentral Hindson BJ, Ness KD, Masquelier DA, Belgrader P, Heredia NJ, Makarewicz AJ, et al. High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem. 2011;83:8604–10.CrossRefPubMedPubMedCentral
19.
go back to reference Pinheiro LB, Coleman VA, Hindson CM, Herrmann J, Hindson BJ, Bhat S, et al. Evaluation of a droplet digital polymerase chain reaction format for DNA copy number quantification. Anal Chem. 2012;84:1003–11.CrossRefPubMed Pinheiro LB, Coleman VA, Hindson CM, Herrmann J, Hindson BJ, Bhat S, et al. Evaluation of a droplet digital polymerase chain reaction format for DNA copy number quantification. Anal Chem. 2012;84:1003–11.CrossRefPubMed
20.
go back to reference Patsalis PC, Kousoulidou L, Sismani C, Mannik K, Kurg A. MAPH: from gels to microarrays. Eur J Med Genet. 2005;48:241–9.CrossRefPubMed Patsalis PC, Kousoulidou L, Sismani C, Mannik K, Kurg A. MAPH: from gels to microarrays. Eur J Med Genet. 2005;48:241–9.CrossRefPubMed
21.
go back to reference Armour JA, Sismani C, Patsalis PC, Cross G. Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res. 2000;28:605–9.CrossRefPubMedPubMedCentral Armour JA, Sismani C, Patsalis PC, Cross G. Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res. 2000;28:605–9.CrossRefPubMedPubMedCentral
22.
go back to reference Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002;30, e57.CrossRefPubMedPubMedCentral Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002;30, e57.CrossRefPubMedPubMedCentral
23.
go back to reference Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science. 1992;258:818–21.CrossRefPubMed Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science. 1992;258:818–21.CrossRefPubMed
24.
go back to reference Reis-Filho JS, Simpson PT, Gale T, Lakhani SR. The molecular genetics of breast cancer: the contribution of comparative genomic hybridization. Pathol Res Pract. 2005;201:713–25.CrossRefPubMed Reis-Filho JS, Simpson PT, Gale T, Lakhani SR. The molecular genetics of breast cancer: the contribution of comparative genomic hybridization. Pathol Res Pract. 2005;201:713–25.CrossRefPubMed
25.
go back to reference Wang Y, Cottman M, Schiffman JD. Molecular inversion probes: a novel microarray technology and its application in cancer research. Cancer Genet. 2012;205:341–55.CrossRefPubMed Wang Y, Cottman M, Schiffman JD. Molecular inversion probes: a novel microarray technology and its application in cancer research. Cancer Genet. 2012;205:341–55.CrossRefPubMed
26.
go back to reference Meldrum C, Doyle MA, Tothill RW. Next-generation sequencing for cancer diagnostics: a practical perspective. Clin Biochem Rev. 2011;32:177–95.PubMedPubMedCentral Meldrum C, Doyle MA, Tothill RW. Next-generation sequencing for cancer diagnostics: a practical perspective. Clin Biochem Rev. 2011;32:177–95.PubMedPubMedCentral
27.
go back to reference Wong SQ, Li J, Salemi R, Sheppard KE, Do H, Tothill RW, et al. Targeted-capture massively-parallel sequencing enables robust detection of clinically informative mutations from formalin-fixed tumours. Sci Rep. 2013;3:3494.PubMedPubMedCentral Wong SQ, Li J, Salemi R, Sheppard KE, Do H, Tothill RW, et al. Targeted-capture massively-parallel sequencing enables robust detection of clinically informative mutations from formalin-fixed tumours. Sci Rep. 2013;3:3494.PubMedPubMedCentral
28.
go back to reference Banerji S, Cibulskis K, Rangel-Escareno C, Brown KK, Carter SL, Frederick AM, et al. Sequence analysis of mutations and translocations across breast cancer subtypes. Nature. 2012;486:405–9.CrossRefPubMedPubMedCentral Banerji S, Cibulskis K, Rangel-Escareno C, Brown KK, Carter SL, Frederick AM, et al. Sequence analysis of mutations and translocations across breast cancer subtypes. Nature. 2012;486:405–9.CrossRefPubMedPubMedCentral
29.
go back to reference Do H, Wong SQ, Li J, Dobrovic A. Reducing sequence artifacts in amplicon-based massively parallel sequencing of formalin-fixed paraffin-embedded DNA by enzymatic depletion of uracil-containing templates. Clinical Chem. 2013;59:1376–83.CrossRef Do H, Wong SQ, Li J, Dobrovic A. Reducing sequence artifacts in amplicon-based massively parallel sequencing of formalin-fixed paraffin-embedded DNA by enzymatic depletion of uracil-containing templates. Clinical Chem. 2013;59:1376–83.CrossRef
30.
go back to reference James LA, Mitchell EL, Menasce L, Varley JM. Comparative genomic hybridisation of ductal carcinoma in situ of the breast: identification of regions of DNA amplification and deletion in common with invasive breast carcinoma. Oncogene. 1997;14:1059–65.CrossRefPubMed James LA, Mitchell EL, Menasce L, Varley JM. Comparative genomic hybridisation of ductal carcinoma in situ of the breast: identification of regions of DNA amplification and deletion in common with invasive breast carcinoma. Oncogene. 1997;14:1059–65.CrossRefPubMed
31.
go back to reference Buerger H, Otterbach F, Simon R, Poremba C, Diallo R, Decker T, et al. Comparative genomic hybridization of ductal carcinoma in situ of the breast - evidence of multiple genetic pathways. J Pathol. 1999;187:396–402.CrossRefPubMed Buerger H, Otterbach F, Simon R, Poremba C, Diallo R, Decker T, et al. Comparative genomic hybridization of ductal carcinoma in situ of the breast - evidence of multiple genetic pathways. J Pathol. 1999;187:396–402.CrossRefPubMed
32.
go back to reference Moore E, Magee H, Coyne J, Gorey T, Dervan PA. Widespread chromosomal abnormalities in high-grade ductal carcinoma in situ of the breast. Comparative genomic hybridization study of pure high-grade DCIS. J Pathol. 1999;187:403–9.CrossRefPubMed Moore E, Magee H, Coyne J, Gorey T, Dervan PA. Widespread chromosomal abnormalities in high-grade ductal carcinoma in situ of the breast. Comparative genomic hybridization study of pure high-grade DCIS. J Pathol. 1999;187:403–9.CrossRefPubMed
33.
go back to reference Reis-Filho JS, Lakhani SR. The diagnosis and management of pre-invasive breast disease: genetic alterations in pre-invasive lesions. Breast Cancer Res. 2003;5:313–9.CrossRefPubMedPubMedCentral Reis-Filho JS, Lakhani SR. The diagnosis and management of pre-invasive breast disease: genetic alterations in pre-invasive lesions. Breast Cancer Res. 2003;5:313–9.CrossRefPubMedPubMedCentral
34.
go back to reference Ellsworth RE, Ellsworth DL, Love B, Patney HL, Hoffman LR, Kane J, et al. Correlation of levels and patterns of genomic instability with histological grading of DCIS. Ann Surg Oncol. 2007;14:3070–7.CrossRefPubMed Ellsworth RE, Ellsworth DL, Love B, Patney HL, Hoffman LR, Kane J, et al. Correlation of levels and patterns of genomic instability with histological grading of DCIS. Ann Surg Oncol. 2007;14:3070–7.CrossRefPubMed
35.
go back to reference Johnson CE, Gorringe KL, Thompson ER, Opeskin K, Boyle SE, Wang Y, et al. Identification of copy number alterations associated with the progression of DCIS to invasive ductal carcinoma. Breast Cancer Res Treat. 2012;133:889–98.CrossRefPubMed Johnson CE, Gorringe KL, Thompson ER, Opeskin K, Boyle SE, Wang Y, et al. Identification of copy number alterations associated with the progression of DCIS to invasive ductal carcinoma. Breast Cancer Res Treat. 2012;133:889–98.CrossRefPubMed
36.
go back to reference Vos CB, ter Haar NT, Rosenberg C, Peterse JL, Cleton-Jansen AM, Cornelisse CJ, et al. Genetic alterations on chromosome 16 and 17 are important features of ductal carcinoma in situ of the breast and are associated with histologic type. Br J Cancer. 1999;81:1410–8.CrossRefPubMedPubMedCentral Vos CB, ter Haar NT, Rosenberg C, Peterse JL, Cleton-Jansen AM, Cornelisse CJ, et al. Genetic alterations on chromosome 16 and 17 are important features of ductal carcinoma in situ of the breast and are associated with histologic type. Br J Cancer. 1999;81:1410–8.CrossRefPubMedPubMedCentral
37.
go back to reference Boecker W, Buerger H, Schmitz K, Ellis IA, van Diest PJ, Sinn HP, et al. Ductal epithelial proliferations of the breast: a biological continuum? Comparative genomic hybridization and high-molecular-weight cytokeratin expression patterns. J Pathol. 2001;195:415–21.CrossRefPubMed Boecker W, Buerger H, Schmitz K, Ellis IA, van Diest PJ, Sinn HP, et al. Ductal epithelial proliferations of the breast: a biological continuum? Comparative genomic hybridization and high-molecular-weight cytokeratin expression patterns. J Pathol. 2001;195:415–21.CrossRefPubMed
38.
go back to reference Hwang ES, DeVries S, Chew KL, Moore 2nd DH, Kerlikowske K, Thor A, et al. Patterns of chromosomal alterations in breast ductal carcinoma in situ. Clin Cancer Res. 2004;10:5160–7.CrossRefPubMed Hwang ES, DeVries S, Chew KL, Moore 2nd DH, Kerlikowske K, Thor A, et al. Patterns of chromosomal alterations in breast ductal carcinoma in situ. Clin Cancer Res. 2004;10:5160–7.CrossRefPubMed
39.
go back to reference Gao Y, Niu Y, Wang X, Wei L, Lu S. Genetic changes at specific stages of breast cancer progression detected by comparative genomic hybridization. J Mol Med (Berl). 2009;87:145–52.CrossRefPubMed Gao Y, Niu Y, Wang X, Wei L, Lu S. Genetic changes at specific stages of breast cancer progression detected by comparative genomic hybridization. J Mol Med (Berl). 2009;87:145–52.CrossRefPubMed
40.
go back to reference Liao S, Desouki MM, Gaile DP, Shepherd L, Nowak NJ, Conroy J, et al. Differential copy number aberrations in novel candidate genes associated with progression from in situ to invasive ductal carcinoma of the breast. Genes Chromosomes Cancer. 2012;51:1067–78.CrossRefPubMedPubMedCentral Liao S, Desouki MM, Gaile DP, Shepherd L, Nowak NJ, Conroy J, et al. Differential copy number aberrations in novel candidate genes associated with progression from in situ to invasive ductal carcinoma of the breast. Genes Chromosomes Cancer. 2012;51:1067–78.CrossRefPubMedPubMedCentral
41.
go back to reference Aubele M, Mattis A, Zitzelsberger H, Walch A, Kremer M, Welzl G, et al. Extensive ductal carcinoma in situ with small foci of invasive ductal carcinoma: evidence of genetic resemblance by CGH. Int J Cancer. 2000;85:82–6.CrossRefPubMed Aubele M, Mattis A, Zitzelsberger H, Walch A, Kremer M, Welzl G, et al. Extensive ductal carcinoma in situ with small foci of invasive ductal carcinoma: evidence of genetic resemblance by CGH. Int J Cancer. 2000;85:82–6.CrossRefPubMed
42.
go back to reference Pinder SE. Ductal carcinoma in situ (DCIS): pathological features, differential diagnosis, prognostic factors and specimen evaluation. Mod Pathol. 2010;23:S8–13.CrossRefPubMed Pinder SE. Ductal carcinoma in situ (DCIS): pathological features, differential diagnosis, prognostic factors and specimen evaluation. Mod Pathol. 2010;23:S8–13.CrossRefPubMed
43.
go back to reference Sotiriou C, Wirapati P, Loi S, Harris A, Fox S, Smeds J, et al. Gene expression profiling in breast cancer: understanding the molecular basis of histologic grade to improve prognosis. J Natl Cancer Inst. 2006;98:262–72.CrossRefPubMed Sotiriou C, Wirapati P, Loi S, Harris A, Fox S, Smeds J, et al. Gene expression profiling in breast cancer: understanding the molecular basis of histologic grade to improve prognosis. J Natl Cancer Inst. 2006;98:262–72.CrossRefPubMed
44.
go back to reference Ho GH, Calvano JE, Bisogna M, Borgen PI, Rosen PP, Tan LK, et al. In microdissected ductal carcinoma in situ, HER-2/neu amplification, but not p53 mutation, is associated with high nuclear grade and comedo histology. Cancer. 2000;89:2153–60.CrossRefPubMed Ho GH, Calvano JE, Bisogna M, Borgen PI, Rosen PP, Tan LK, et al. In microdissected ductal carcinoma in situ, HER-2/neu amplification, but not p53 mutation, is associated with high nuclear grade and comedo histology. Cancer. 2000;89:2153–60.CrossRefPubMed
45.
go back to reference Aulmann S, Bentz M, Sinn HP. C-myc oncogene amplification in ductal carcinoma in situ of the breast. Breast Cancer Res Treat. 2002;74:25–31.CrossRefPubMed Aulmann S, Bentz M, Sinn HP. C-myc oncogene amplification in ductal carcinoma in situ of the breast. Breast Cancer Res Treat. 2002;74:25–31.CrossRefPubMed
46.
go back to reference Jang MH, Kim EJ, Choi Y, Lee HE, Kim YJ, Kim JH, et al. FGFR1 is amplified during the progression of in situ to invasive breast carcinoma. Breast Cancer Res. 2012;14:R115.CrossRefPubMedPubMedCentral Jang MH, Kim EJ, Choi Y, Lee HE, Kim YJ, Kim JH, et al. FGFR1 is amplified during the progression of in situ to invasive breast carcinoma. Breast Cancer Res. 2012;14:R115.CrossRefPubMedPubMedCentral
47.
go back to reference Moelans CB, de Wegers RA, Monsuurs HN, Maess AH, van Diest PJ. Molecular differences between ductal carcinoma in situ and adjacent invasive breast carcinoma: a multiplex ligation-dependent probe amplification study. Cell Oncol (Dordr). 2011;34:475–82.CrossRefPubMedPubMedCentral Moelans CB, de Wegers RA, Monsuurs HN, Maess AH, van Diest PJ. Molecular differences between ductal carcinoma in situ and adjacent invasive breast carcinoma: a multiplex ligation-dependent probe amplification study. Cell Oncol (Dordr). 2011;34:475–82.CrossRefPubMedPubMedCentral
48.
go back to reference Perou CM, Sorlie T, Eisen MB, van de Rijn M, Jeffrey SS, Rees CA, et al. Molecular portraits of human breast tumours. Nature. 2000;406:747–52.CrossRefPubMed Perou CM, Sorlie T, Eisen MB, van de Rijn M, Jeffrey SS, Rees CA, et al. Molecular portraits of human breast tumours. Nature. 2000;406:747–52.CrossRefPubMed
49.
go back to reference Sorlie T, Tibshirani R, Parker J, Hastie T, Marron JS, Nobel A, et al. Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci U S A. 2003;100:8418–23.CrossRefPubMedPubMedCentral Sorlie T, Tibshirani R, Parker J, Hastie T, Marron JS, Nobel A, et al. Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci U S A. 2003;100:8418–23.CrossRefPubMedPubMedCentral
50.
go back to reference Curtis C, Shah SP, Chin SF, Turashvili G, Rueda OM, Dunning MJ, et al. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature. 2012;486:346–52.PubMedPubMedCentral Curtis C, Shah SP, Chin SF, Turashvili G, Rueda OM, Dunning MJ, et al. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature. 2012;486:346–52.PubMedPubMedCentral
51.
go back to reference Nielsen TO, Hsu FD, Jensen K, Cheang M, Karaca G, Hu Z, et al. Immunohistochemical and clinical characterization of the basal-like subtype of invasive breast carcinoma. Clin Cancer Res. 2004;10:5367–74.CrossRefPubMed Nielsen TO, Hsu FD, Jensen K, Cheang M, Karaca G, Hu Z, et al. Immunohistochemical and clinical characterization of the basal-like subtype of invasive breast carcinoma. Clin Cancer Res. 2004;10:5367–74.CrossRefPubMed
52.
go back to reference Cheang MC, Voduc D, Bajdik C, Leung S, McKinney S, Chia SK, et al. Basal-like breast cancer defined by five biomarkers has superior prognostic value than triple-negative phenotype. Clin Cancer Res. 2008;14:1368–76.CrossRefPubMed Cheang MC, Voduc D, Bajdik C, Leung S, McKinney S, Chia SK, et al. Basal-like breast cancer defined by five biomarkers has superior prognostic value than triple-negative phenotype. Clin Cancer Res. 2008;14:1368–76.CrossRefPubMed
53.
go back to reference Cheang MC, Chia SK, Voduc D, Gao D, Leung S, Snider J, et al. Ki67 index, HER2 status, and prognosis of patients with luminal B breast cancer. J Natl Cancer Inst. 2009;101:736–50.CrossRefPubMedPubMedCentral Cheang MC, Chia SK, Voduc D, Gao D, Leung S, Snider J, et al. Ki67 index, HER2 status, and prognosis of patients with luminal B breast cancer. J Natl Cancer Inst. 2009;101:736–50.CrossRefPubMedPubMedCentral
54.
go back to reference Vincent-Salomon A, Lucchesi C, Gruel N, Raynal V, Pierron G, Goudefroye R, et al. Integrated genomic and transcriptomic analysis of ductal carcinoma in situ of the breast. Clin Cancer Res. 2008;14:1956–65.CrossRefPubMed Vincent-Salomon A, Lucchesi C, Gruel N, Raynal V, Pierron G, Goudefroye R, et al. Integrated genomic and transcriptomic analysis of ductal carcinoma in situ of the breast. Clin Cancer Res. 2008;14:1956–65.CrossRefPubMed
55.
go back to reference Fridlyand J, Snijders AM, Ylstra B, Li H, Olshen A, Segraves R, et al. Breast tumor copy number aberration phenotypes and genomic instability. BMC Cancer. 2006;6:96.CrossRefPubMedPubMedCentral Fridlyand J, Snijders AM, Ylstra B, Li H, Olshen A, Segraves R, et al. Breast tumor copy number aberration phenotypes and genomic instability. BMC Cancer. 2006;6:96.CrossRefPubMedPubMedCentral
56.
go back to reference Chin K, DeVries S, Fridlyand J, Spellman PT, Roydasgupta R, Kuo WL, et al. Genomic and transcriptional aberrations linked to breast cancer pathophysiologies. Cancer Cell. 2006;10:529–41.CrossRefPubMed Chin K, DeVries S, Fridlyand J, Spellman PT, Roydasgupta R, Kuo WL, et al. Genomic and transcriptional aberrations linked to breast cancer pathophysiologies. Cancer Cell. 2006;10:529–41.CrossRefPubMed
57.
go back to reference Farabegoli F, Champeme MH, Bieche I, Santini D, Ceccarelli C, Derenzini M, et al. Genetic pathways in the evolution of breast ductal carcinoma in situ. J Pathol. 2002;196:280–6.CrossRefPubMed Farabegoli F, Champeme MH, Bieche I, Santini D, Ceccarelli C, Derenzini M, et al. Genetic pathways in the evolution of breast ductal carcinoma in situ. J Pathol. 2002;196:280–6.CrossRefPubMed
58.
go back to reference Werner M, Mattis A, Aubele M, Cummings M, Zitzelsberger H, Hutzler P, et al. 20q13.2 amplification in intraductal hyperplasia adjacent to in situ and invasive ductal carcinoma of the breast. Virchows Arch. 1999;435:469–72.CrossRefPubMed Werner M, Mattis A, Aubele M, Cummings M, Zitzelsberger H, Hutzler P, et al. 20q13.2 amplification in intraductal hyperplasia adjacent to in situ and invasive ductal carcinoma of the breast. Virchows Arch. 1999;435:469–72.CrossRefPubMed
59.
go back to reference Iakovlev VV, Arneson NC, Wong V, Wang C, Leung S, Iakovleva G, et al. Genomic differences between pure ductal carcinoma in situ of the breast and that associated with invasive disease: a calibrated aCGH study. Clin Cancer Res. 2008;14:4446–54.CrossRefPubMed Iakovlev VV, Arneson NC, Wong V, Wang C, Leung S, Iakovleva G, et al. Genomic differences between pure ductal carcinoma in situ of the breast and that associated with invasive disease: a calibrated aCGH study. Clin Cancer Res. 2008;14:4446–54.CrossRefPubMed
60.
go back to reference Burkhardt L, Grob TJ, Hermann I, Burandt E, Choschzick M, Janicke F, et al. Gene amplification in ductal carcinoma in situ of the breast. Breast Cancer Res Treat. 2010;123:757–65.CrossRefPubMed Burkhardt L, Grob TJ, Hermann I, Burandt E, Choschzick M, Janicke F, et al. Gene amplification in ductal carcinoma in situ of the breast. Breast Cancer Res Treat. 2010;123:757–65.CrossRefPubMed
61.
go back to reference Hernandez L, Wilkerson PM, Lambros MB, Campion-Flora A, Rodrigues DN, Gauthier A, et al. Genomic and mutational profiling of ductal carcinomas in situ and matched adjacent invasive breast cancers reveals intra-tumour genetic heterogeneity and clonal selection. J Pathol. 2012;227:42–52.CrossRefPubMedPubMedCentral Hernandez L, Wilkerson PM, Lambros MB, Campion-Flora A, Rodrigues DN, Gauthier A, et al. Genomic and mutational profiling of ductal carcinomas in situ and matched adjacent invasive breast cancers reveals intra-tumour genetic heterogeneity and clonal selection. J Pathol. 2012;227:42–52.CrossRefPubMedPubMedCentral
62.
go back to reference Robanus-Maandag EC, Bosch CA, Kristel PM, Hart AA, Faneyte IF, Nederlof PM, et al. Association of C-MYC amplification with progression from the in situ to the invasive stage in C-MYC-amplified breast carcinomas. J Pathol. 2003;201:75–82.CrossRefPubMed Robanus-Maandag EC, Bosch CA, Kristel PM, Hart AA, Faneyte IF, Nederlof PM, et al. Association of C-MYC amplification with progression from the in situ to the invasive stage in C-MYC-amplified breast carcinomas. J Pathol. 2003;201:75–82.CrossRefPubMed
63.
go back to reference Heselmeyer-Haddad K, Berroa Garcia LY, Bradley A, Ortiz-Melendez C, Lee WJ, Christensen R, et al. Single-cell genetic analysis of ductal carcinoma in situ and invasive breast cancer reveals enormous tumor heterogeneity yet conserved genomic imbalances and gain of MYC during progression. Am J Pathol. 2012;181:1807–22.CrossRefPubMedPubMedCentral Heselmeyer-Haddad K, Berroa Garcia LY, Bradley A, Ortiz-Melendez C, Lee WJ, Christensen R, et al. Single-cell genetic analysis of ductal carcinoma in situ and invasive breast cancer reveals enormous tumor heterogeneity yet conserved genomic imbalances and gain of MYC during progression. Am J Pathol. 2012;181:1807–22.CrossRefPubMedPubMedCentral
64.
go back to reference Mu K, Li L, Yang Q, Zhang T, Gao P, Meng B, et al. Detection of CHK1 and CCND1 gene copy number changes in breast cancer with dual-colour fluorescence in-situ hybridization. Histopathology. 2011;58:601–7.CrossRefPubMed Mu K, Li L, Yang Q, Zhang T, Gao P, Meng B, et al. Detection of CHK1 and CCND1 gene copy number changes in breast cancer with dual-colour fluorescence in-situ hybridization. Histopathology. 2011;58:601–7.CrossRefPubMed
65.
go back to reference Allred DC, Wu Y, Mao S, Nagtegaal ID, Lee S, Perou CM, et al. Ductal carcinoma in situ and the emergence of diversity during breast cancer evolution. Clin Cancer Res. 2008;14:370–8.CrossRefPubMed Allred DC, Wu Y, Mao S, Nagtegaal ID, Lee S, Perou CM, et al. Ductal carcinoma in situ and the emergence of diversity during breast cancer evolution. Clin Cancer Res. 2008;14:370–8.CrossRefPubMed
66.
go back to reference Fujii H, Marsh C, Cairns P, Sidransky D, Gabrielson E. Genetic divergence in the clonal evolution of breast cancer. Cancer Res. 1996;56:1493–7.PubMed Fujii H, Marsh C, Cairns P, Sidransky D, Gabrielson E. Genetic divergence in the clonal evolution of breast cancer. Cancer Res. 1996;56:1493–7.PubMed
67.
go back to reference Maley CC, Galipeau PC, Finley JC, Wongsurawat VJ, Li X, Sanchez CA, et al. Genetic clonal diversity predicts progression to esophageal adenocarcinoma. Nat Genet. 2006;38:468–73.CrossRefPubMed Maley CC, Galipeau PC, Finley JC, Wongsurawat VJ, Li X, Sanchez CA, et al. Genetic clonal diversity predicts progression to esophageal adenocarcinoma. Nat Genet. 2006;38:468–73.CrossRefPubMed
68.
go back to reference Hwang ES, Lal A, Chen YY, DeVries S, Swain R, Anderson J, et al. Genomic alterations and phenotype of large compared to small high-grade ductal carcinoma in situ. Human Pathol. 2011;42:1467–75.CrossRef Hwang ES, Lal A, Chen YY, DeVries S, Swain R, Anderson J, et al. Genomic alterations and phenotype of large compared to small high-grade ductal carcinoma in situ. Human Pathol. 2011;42:1467–75.CrossRef
69.
go back to reference Dunlap J, Le C, Shukla A, Patterson J, Presnell A, Heinrich MC, et al. Phosphatidylinositol-3-kinase and AKT1 mutations occur early in breast carcinoma. Breast Cancer Res Treat. 2010;120:409–18.CrossRefPubMed Dunlap J, Le C, Shukla A, Patterson J, Presnell A, Heinrich MC, et al. Phosphatidylinositol-3-kinase and AKT1 mutations occur early in breast carcinoma. Breast Cancer Res Treat. 2010;120:409–18.CrossRefPubMed
70.
go back to reference Troxell ML, Brunner AL, Neff T, Warrick A, Beadling C, Montgomery K, et al. Phosphatidylinositol-3-kinase pathway mutations are common in breast columnar cell lesions. Mod Pathol. 2012;25:930–7.CrossRefPubMed Troxell ML, Brunner AL, Neff T, Warrick A, Beadling C, Montgomery K, et al. Phosphatidylinositol-3-kinase pathway mutations are common in breast columnar cell lesions. Mod Pathol. 2012;25:930–7.CrossRefPubMed
71.
go back to reference Li H, Zhu R, Wang L, Zhu T, Li Q, Chen Q, et al. PIK3CA mutations mostly begin to develop in ductal carcinoma of the breast. Exp Mol Pathol. 2010;88:150–5.CrossRefPubMed Li H, Zhu R, Wang L, Zhu T, Li Q, Chen Q, et al. PIK3CA mutations mostly begin to develop in ductal carcinoma of the breast. Exp Mol Pathol. 2010;88:150–5.CrossRefPubMed
72.
go back to reference Sakr RA, Weigelt B, Chandarlapaty S, Andrade VP, Guerini-Rocco E, Giri D, et al. PI3K pathway activation in high-grade ductal carcinoma in situ - implications for progression to invasive breast carcinoma. Clin Cancer Res. 2014;20:2326–37.CrossRefPubMedPubMedCentral Sakr RA, Weigelt B, Chandarlapaty S, Andrade VP, Guerini-Rocco E, Giri D, et al. PI3K pathway activation in high-grade ductal carcinoma in situ - implications for progression to invasive breast carcinoma. Clin Cancer Res. 2014;20:2326–37.CrossRefPubMedPubMedCentral
73.
go back to reference Miron A, Varadi M, Carrasco D, Li H, Luongo L, Kim HJ, et al. PIK3CA mutations in in situ and invasive breast carcinomas. Cancer Res. 2010;70:5674–8.CrossRefPubMedPubMedCentral Miron A, Varadi M, Carrasco D, Li H, Luongo L, Kim HJ, et al. PIK3CA mutations in in situ and invasive breast carcinomas. Cancer Res. 2010;70:5674–8.CrossRefPubMedPubMedCentral
74.
go back to reference Troxell ML, Levine J, Beadling C, Warrick A, Dunlap J, Presnell A, et al. High prevalence of PIK3CA/AKT pathway mutations in papillary neoplasms of the breast. Mod Pathol. 2010;23:27–37.CrossRefPubMed Troxell ML, Levine J, Beadling C, Warrick A, Dunlap J, Presnell A, et al. High prevalence of PIK3CA/AKT pathway mutations in papillary neoplasms of the breast. Mod Pathol. 2010;23:27–37.CrossRefPubMed
75.
go back to reference Munn KE, Walker RA, Menasce L, Varley JM. Mutation of the TP53 gene and allelic imbalance at chromosome 17p13 in ductal carcinoma in situ. Br J Cancer. 1996;74:1578–85.CrossRefPubMedPubMedCentral Munn KE, Walker RA, Menasce L, Varley JM. Mutation of the TP53 gene and allelic imbalance at chromosome 17p13 in ductal carcinoma in situ. Br J Cancer. 1996;74:1578–85.CrossRefPubMedPubMedCentral
76.
go back to reference Chitemerere M, Andersen TI, Holm R, Karlsen F, Borresen AL, Nesland JM. TP53 alterations in atypical ductal hyperplasia and ductal carcinoma in situ of the breast. Breast Cancer Res Treat. 1996;41:103–9.CrossRefPubMed Chitemerere M, Andersen TI, Holm R, Karlsen F, Borresen AL, Nesland JM. TP53 alterations in atypical ductal hyperplasia and ductal carcinoma in situ of the breast. Breast Cancer Res Treat. 1996;41:103–9.CrossRefPubMed
77.
go back to reference Done SJ, Eskandarian S, Bull S, Redston M, Andrulis IL. p53 missense mutations in microdissected high-grade ductal carcinoma in situ of the breast. J Natl Cancer Inst. 2001;93:700–4.CrossRefPubMed Done SJ, Eskandarian S, Bull S, Redston M, Andrulis IL. p53 missense mutations in microdissected high-grade ductal carcinoma in situ of the breast. J Natl Cancer Inst. 2001;93:700–4.CrossRefPubMed
78.
go back to reference Zhou W, Muggerud AA, Vu P, Due EU, Sorlie T, Borresen-Dale AL, et al. Full sequencing of TP53 identifies identical mutations within in situ and invasive components in breast cancer suggesting clonal evolution. Mol Oncol. 2009;3:214–9.CrossRefPubMed Zhou W, Muggerud AA, Vu P, Due EU, Sorlie T, Borresen-Dale AL, et al. Full sequencing of TP53 identifies identical mutations within in situ and invasive components in breast cancer suggesting clonal evolution. Mol Oncol. 2009;3:214–9.CrossRefPubMed
79.
go back to reference Kang JH, Kim SJ, Noh DY, Choe KJ, Lee ES, Kang HS. The timing and characterization of p53 mutations in progression from atypical ductal hyperplasia to invasive lesions in the breast cancer. J Mol Med (Berl). 2001;79:648–55.CrossRefPubMed Kang JH, Kim SJ, Noh DY, Choe KJ, Lee ES, Kang HS. The timing and characterization of p53 mutations in progression from atypical ductal hyperplasia to invasive lesions in the breast cancer. J Mol Med (Berl). 2001;79:648–55.CrossRefPubMed
80.
go back to reference Robinson DR, Kalyana-Sundaram S, Wu YM, Shankar S, Cao X, Ateeq B, et al. Functionally recurrent rearrangements of the MAST kinase and Notch gene families in breast cancer. Nat Med. 2011;17:1646–51.CrossRefPubMedPubMedCentral Robinson DR, Kalyana-Sundaram S, Wu YM, Shankar S, Cao X, Ateeq B, et al. Functionally recurrent rearrangements of the MAST kinase and Notch gene families in breast cancer. Nat Med. 2011;17:1646–51.CrossRefPubMedPubMedCentral
81.
go back to reference Clay MR, Varma S, West RB. MAST2 and NOTCH1 translocations in breast carcinoma and associated pre-invasive lesions. Human Pathol. 2013;44:2837–44.CrossRef Clay MR, Varma S, West RB. MAST2 and NOTCH1 translocations in breast carcinoma and associated pre-invasive lesions. Human Pathol. 2013;44:2837–44.CrossRef
82.
go back to reference Stephens PJ, McBride DJ, Lin ML, Varela I, Pleasance ED, Simpson JT, et al. Complex landscapes of somatic rearrangement in human breast cancer genomes. Nature. 2009;462:1005–10.CrossRefPubMedPubMedCentral Stephens PJ, McBride DJ, Lin ML, Varela I, Pleasance ED, Simpson JT, et al. Complex landscapes of somatic rearrangement in human breast cancer genomes. Nature. 2009;462:1005–10.CrossRefPubMedPubMedCentral
83.
go back to reference Allen MD, Marshall JF, Jones JL. Alphavbeta6 expression in myoepithelial cells: a novel marker for predicting DCIS progression with therapeutic potential. Cancer Res. 2014;74:5942–7.CrossRefPubMed Allen MD, Marshall JF, Jones JL. Alphavbeta6 expression in myoepithelial cells: a novel marker for predicting DCIS progression with therapeutic potential. Cancer Res. 2014;74:5942–7.CrossRefPubMed
84.
go back to reference Cowell CF, Weigelt B, Sakr RA, Ng CK, Hicks J, King TA, et al. Progression from ductal carcinoma in situ to invasive breast cancer: revisited. Mol Oncol. 2013;7:859–69.CrossRefPubMed Cowell CF, Weigelt B, Sakr RA, Ng CK, Hicks J, King TA, et al. Progression from ductal carcinoma in situ to invasive breast cancer: revisited. Mol Oncol. 2013;7:859–69.CrossRefPubMed
85.
Metadata
Title
Appraisal of the technologies and review of the genomic landscape of ductal carcinoma in situ of the breast
Authors
Jia-Min B. Pang
Kylie L. Gorringe
Stephen Q. Wong
Alexander Dobrovic
Ian G. Campbell
Stephen B. Fox
Publication date
01-12-2015
Publisher
BioMed Central
Published in
Breast Cancer Research / Issue 1/2015
Electronic ISSN: 1465-542X
DOI
https://doi.org/10.1186/s13058-015-0586-z

Other articles of this Issue 1/2015

Breast Cancer Research 1/2015 Go to the issue
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine