Emerging gene-based prognostic tools in early breast cancer: First steps to personalised medicine

World Journal of Clinical Oncology

Volumn 5, Issue 5, 2014, Pages 795-799

  Wazir, Umar ^a   Mokbel, Kefah ^a  

^a Princess Grace Hospital   (United Kingdom)

Author keywords

Breast cancer; Personalised medicine; Polymerase chain reaction; Prognosis

Indexed keywords

EID: 84941660395     PISSN: None     EISSN: 22184333     Source Type: Journal    
DOI: 10.5306/wjco.v5.i5.795     Document Type: Review

References (35)

1. ONS. Cancer registration statistics, england, 2011. London: Office of National Statistics, 2013. Available from: URL: http: //www.ons.gov.uk/ons/rel/vsob1/cancer-statistics-registrations-england-series-mb1-/no-42-2011/stb-cancer-statisticsregistrations-2011.html
2. Early and locally advanced breast cancer - diagnosis and treatment. London, UK: National Collaborating Centre for Cancer, 2009. Available from: URL: http: //www.nice.org.uk/guidance/cg80
3. Haybittle JL, Blamey RW, Elston CW, Johnson J, Doyle PJ, Campbell FC, Nicholson RI, Griffiths K. A prognostic index in primary breast cancer. Br J Cancer 1982; 45: 361-366 [PMID: 7073932]
4. Olivotto IA, Bajdik CD, Ravdin PM, Speers CH, Coldman AJ, Norris BD, Davis GJ, Chia SK, Gelmon KA. Populationbased validation of the prognostic model ADJUVANT! for early breast cancer. J Clin Oncol 2005; 23: 2716-2725 [PMID: 15837986 DOI: 10.1200/JCO.2005.06.178]
5. Davies C, Pan H, Godwin J, Gray R, Arriagada R, Raina V, Abraham M, Medeiros Alencar VH, Badran A, Bonfill X, Bradbury J, Clarke M, Collins R, Davis SR, Delmestri A, Forbes JF, Haddad P, Hou MF, Inbar M, Khaled H, Kielanowska J, Kwan WH, Mathew BS, Mittra I, Müller B, Nicolucci A, Peralta O, Pernas F, Petruzelka L, Pienkowski T, Radhika R, Rajan B, Rubach MT, Tort S, Urrútia G, Valentini M, Wang Y, Peto R. Long-term effects of continuing adjuvant tamoxifen to 10 years versus stopping at 5 years after diagnosis of oestrogen receptor-positive breast cancer: ATLAS, a randomised trial. Lancet 2013; 381: 805-816 [PMID: 23219286 DOI: 10.1016/S0140-6736(12)61963-1]
6. Perou CM, Sørlie T, Eisen MB, van de Rijn M, Jeffrey SS, Rees CA, Pollack JR, Ross DT, Johnsen H, Akslen LA, Fluge O, Pergamenschikov A, Williams C, Zhu SX, Lønning PE, Børresen-Dale AL, Brown PO, Botstein D. Molecular portraits of human breast tumours. Nature 2000; 406: 747-752 [PMID: 10963602 DOI: 10.1038/35021093]
7. Kittaneh M, Montero AJ, Glück S. Molecular profiling for breast cancer: a comprehensive review. Biomark Cancer 2013; 5: 61-70 [PMID: 24250234 DOI: 10.4137/BIC.S9455]
8. Sinn P, Aulmann S, Wirtz R, Schott S, Marme F, Varga Z, Lebeau A, Kreipe H, Schneeweiss A. Multigene Assays for Classification, Prognosis, and Prediction in Breast Cancer: a Critical Review on the Background and Clinical Utility. Geburtshilfe Frauenheilkd 2013; 73: 932-940 [PMID: 24771945 DOI: 10.1055/s-0033-1350831]
9. van 't Veer LJ, Dai H, van de Vijver MJ, He YD, Hart AA, Mao M, Peterse HL, van der Kooy K, Marton MJ, Witteveen AT, Schreiber GJ, Kerkhoven RM, Roberts C, Linsley PS, Bernards R, Friend SH. Gene expression profiling predicts clinical outcome of breast cancer. Nature 2002; 415: 530-536 [PMID: 11823860 DOI: 10.1038/415530a]
10. Bueno-de-Mesquita JM, Linn SC, Keijzer R, Wesseling J, Nuyten DS, van Krimpen C, Meijers C, de Graaf PW, Bos MM, Hart AA, Rutgers EJ, Peterse JL, Halfwerk H, de Groot R, Pronk A, Floore AN, Glas AM, Van't Veer LJ, van de Vijver MJ. Validation of 70-gene prognosis signature in nodenegative breast cancer. Breast Cancer Res Treat 2009; 117: 483-495 [PMID: 18819002 DOI: 10.1007/s10549-008-0191-2]
11. Gene expression profiling and expanded immunohistochemistry tests for guiding adjuvant chemotherapy decisions in early breast cancer management: Mammaprint, oncotype dx, ihc4 and mammostrat. London, UK: National Institute for Health and Care Excellence (NICE), 2013. Available from: URL: http: //www.nice.org.uk/guidance/dg10
12. Knauer M, Mook S, Rutgers EJ, Bender RA, Hauptmann M, van de Vijver MJ, Koornstra RH, Bueno-de-Mesquita JM, Linn SC, van 't Veer LJ. The predictive value of the 70-gene signature for adjuvant chemotherapy in early breast cancer. Breast Cancer Res Treat 2010; 120: 655-661 [PMID: 20204499 DOI: 10.1007/s10549-010-0814-2]
13. Cardoso F, Van't Veer L, Rutgers E, Loi S, Mook S, Piccart-Gebhart MJ. Clinical application of the 70-gene profile: the MINDACT trial. J Clin Oncol 2008; 26: 729-735 [PMID: 18258980 DOI: 10.1200/JCO.2007.14.3222]
14. Lo SS, Mumby PB, Norton J, Rychlik K, Smerage J, Kash J, Chew HK, Gaynor ER, Hayes DF, Epstein A, Albain KS. Prospective multicenter study of the impact of the 21-gene recurrence score assay on medical oncologist and patient adjuvant breast cancer treatment selection. J Clin Oncol 2010; 28: 1671-1676 [PMID: 20065191 DOI: 10.1200/JCO.2008.20.2119]
15. Oratz R, Kim B, Chao C, Skrzypczak S, Ory C, Bugarini R, Broder M. Physician survey of the effect of the 21-gene recurrence score assay results on treatment recommendations for patients with lymph node-positive, estrogen receptorpositive breast cancer. J Oncol Pract 2011; 7: 94-99 [PMID: 21731516 DOI: 10.1200/JOP.2010.000046]
16. Paik S, Shak S, Tang G, Kim C, Baker J, Cronin M, Baehner FL, Walker MG, Watson D, Park T, Hiller W, Fisher ER, Wickerham DL, Bryant J, Wolmark N. A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. N Engl J Med 2004; 351: 2817-2826 [PMID: 15591335 DOI: 10.1056/NEJMoa041588]
17. Paik S, Tang G, Shak S, Kim C, Baker J, Kim W, Cronin M, Baehner FL, Watson D, Bryant J, Costantino JP, Geyer CE, Wickerham DL, Wolmark N. Gene expression and benefit of chemotherapy in women with node-negative, estrogen receptor-positive breast cancer. J Clin Oncol 2006; 24: 3726-3734 [PMID: 16720680 DOI: 10.1200/JCO.2005.04.7985]
18. Albain KS, Barlow WE, Shak S, Hortobagyi GN, Livingston RB, Yeh IT, Ravdin P, Bugarini R, Baehner FL, Davidson NE, Sledge GW, Winer EP, Hudis C, Ingle JN, Perez EA, Pritchard KI, Shepherd L, Gralow JR, Yoshizawa C, Allred DC, Osborne CK, Hayes DF. Prognostic and predictive value of the 21-gene recurrence score assay in postmenopausal women with node-positive, oestrogen-receptor-positive breast cancer on chemotherapy: a retrospective analysis of a randomised trial. Lancet Oncol 2010; 11: 55-65 [PMID: 20005174 DOI: 10.1016/S1470-2045(09)70314-6]
19. Sparano JA. TAILORx: trial assigning individualized options for treatment (Rx). Clin Breast Cancer 2006; 7: 347-350 [PMID: 17092406 DOI: 10.3816/CBC.2006.n.051]
20. Holt S, Bertelli G, Humphreys I, Valentine W, Durrani S, Pudney D, Rolles M, Moe M, Khawaja S, Sharaiha Y, Brinkworth E, Whelan S, Jones S, Bennett H, Phillips CJ. A decision impact, decision conflict and economic assessment of routine Oncotype DX testing of 146 women with nodenegative or pNImi, ER-positive breast cancer in the U.K. Br J Cancer 2013; 108: 2250-2258 [PMID: 23695023 DOI: 10.1038/bjc.2013.207]
21. OHTAC recommendation: Multi-gene expression profiling for guiding adjuvant chemotherapy decisions in women with early breast cancer. Toronto: Ontario Health Technology Advisory Committee, October 2010. Available from: URL: http: //www.hqontario.ca/evidence/publicationsand-ohtac-recommendations/ontario-health-technologyassessment-series/gene-expression-profiling-for-guidingadjuvant-chemotherapy-decisions-in-women-with-earlybreast-cancer
22. Gene expression profiling for guiding adjuvant chemotherapy decisions in women with early breast cancer: an evidence-based and economic analysis. Ont Health Technol Assess Ser 2010; 10: 1-57 [PMID: 23074401]
23. Parker JS, Mullins M, Cheang MC, Leung S, Voduc D, Vickery T, Davies S, Fauron C, He X, Hu Z, Quackenbush JF, Stijleman IJ, Palazzo J, Marron JS, Nobel AB, Mardis E, Nielsen TO, Ellis MJ, Perou CM, Bernard PS. Supervised risk predictor of breast cancer based on intrinsic subtypes. J Clin Oncol 2009; 27: 1160-1167 [PMID: 19204204 DOI: 10.1200/JCO.2008.18.1370]
24. Dudoit S, Fridlyand J. A prediction-based resampling method for estimating the number of clusters in a dataset. Genome Biol 2002; 3: RESEARCH0036 [PMID: 12184810]
25. Nielsen TO, Parker JS, Leung S, Voduc D, Ebbert M, Vickery T, Davies SR, Snider J, Stijleman IJ, Reed J, Cheang MC, Mardis ER, Perou CM, Bernard PS, Ellis MJ. A comparison of PAM50 intrinsic subtyping with immunohistochemistry and clinical prognostic factors in tamoxifen-treated estrogen receptor-positive breast cancer. Clin Cancer Res 2010; 16: 5222-5232 [PMID: 20837693 DOI: 10.1158/1078-0432. CCR-10-1282]
26. Nielsen T, Wallden B, Schaper C, Ferree S, Liu S, Gao D, Barry G, Dowidar N, Maysuria M, Storhoff J. Analytical validation of the PAM50-based Prosigna Breast Cancer Prognostic Gene Signature Assay and nCounter Analysis System using formalinfixed paraffin-embedded breast tumor specimens. BMC Cancer 2014; 14: 177 [PMID: 24625003 DOI: 10.1186/1471-2407-14-177]
27. Kulkarni MM. Digital multiplexed gene expression analysis using the NanoString nCounter system. Curr Protoc Mol Biol 2011; Chapter 25: Unit25B.10 [PMID: 21472696 DOI: 10.1002/0471142727.mb25b10s94]
28. Dowsett M, Sestak I, Lopez-Knowles E, Sidhu K, Dunbier AK, Cowens JW, Ferree S, Storhoff J, Schaper C, Cuzick J. Comparison of PAM50 risk of recurrence score with oncotype DX and IHC4 for predicting risk of distant recurrence after endocrine therapy. J Clin Oncol 2013; 31: 2783-2790 [PMID: 23816962 DOI: 10.1200/JCO.2012.46.1558]
29. Gnant M, Filipits M, Greil R, Stoeger H, Rudas M, Bago-Horvath Z, Mlineritsch B, Kwasny W, Knauer M, Singer C, Jakesz R, Dubsky P, Fitzal F, Bartsch R, Steger G, Balic M, Ressler S, Cowens JW, Storhoff J, Ferree S, Schaper C, Liu S, Fesl C, Nielsen TO. Predicting distant recurrence in receptor-positive breast cancer patients with limited clinicopathological risk: using the PAM50 Risk of Recurrence score in 1478 postmenopausal patients of the ABCSG-8 trial treated with adjuvant endocrine therapy alone. Ann Oncol 2014; 25: 339-345 [PMID: 24347518 DOI: 10.1093/annonc/mdt494]
30. Denkert C, Kronenwett R, Schlake W, Bohmann K, Penzel R, Weber KE, Höfler H, Lehmann U, Schirmacher P, Specht K, Rudas M, Kreipe HH, Schraml P, Schlake G, Bago-Horvath Z, Tiecke F, Varga Z, Moch H, Schmidt M, Prinzler J, Kerjaschki D, Sinn BV, Müller BM, Filipits M, Petry C, Dietel M. Decentral gene expression analysis for ER+/Her2- breast cancer: results of a proficiency testing program for the EndoPredict assay. Virchows Arch 2012; 460: 251-259 [PMID: 22371223 DOI: 10.1007/s00428-012-1204-4]
31. Dubsky P, Brase JC, Jakesz R, Rudas M, Singer CF, Greil R, Dietze O, Luisser I, Klug E, Sedivy R, Bachner M, Mayr D, Schmidt M, Gehrmann MC, Petry C, Weber KE, Fisch K, Kronenwett R, Gnant M, Filipits M. The EndoPredict score provides prognostic information on late distant metastases in ER+/HER2- breast cancer patients. Br J Cancer 2013; 109: 2959-2964 [PMID: 24157828 DOI: 10.1038/bjc.2013.671]
32. Dubsky P, Filipits M, Jakesz R, Rudas M, Singer CF, Greil R, Dietze O, Luisser I, Klug E, Sedivy R, Bachner M, Mayr D, Schmidt M, Gehrmann MC, Petry C, Weber KE, Kronenwett R, Brase JC, Gnant M. EndoPredict improves the prognostic classification derived from common clinical guidelines in ER-positive, HER2-negative early breast cancer. Ann Oncol 2013; 24: 640-647 [PMID: 23035151 DOI: 10.1093/annonc/mds334]
33. Filipits M, Rudas M, Jakesz R, Dubsky P, Fitzal F, Singer CF, Dietze O, Greil R, Jelen A, Sevelda P, Freibauer C, Müller V, Jänicke F, Schmidt M, Kölbl H, Rody A, Kaufmann M, Schroth W, Brauch H, Schwab M, Fritz P, Weber KE, Feder IS, Hennig G, Kronenwett R, Gehrmann M, Gnant M. A new molecular predictor of distant recurrence in ER-positive, HER2-negative breast cancer adds independent information to conventional clinical risk factors. Clin Cancer Res 2011; 17: 6012-6020 [PMID: 21807638 DOI: 10.1158/1078-0432.CCR-11-0926]
34. Muller BM, Keil E, Lehmann A, Winzer KJ, Richter-Ehrenstein C, Prinzler J, Bangemann N, Reles A, Stadie S, Schoenegg W, Eucker J, Schmidt M, Lippek F, Johrens K, Pahl S, Sinn BV, Budczies J, Dietel M, Denkert C. The EndoPredict Gene-Expression Assay in Clinical Practice - Performance and Impact on Clinical Decisions. PLoS One 2013; 8: e68252 [PMID: 23826382 DOI: 10.1371/journal.pone.0068252]
35. Blank PR, Schwenkglenks M, Dubsky P, Filipits M, Gutzwiller F, Lux MP, Brase J, Kronenwett R, Szucs TD, Gnant M. Health economic analysis of guideline and gene expression signature-based risk stratification of distant recurrence in early breast cancer patients. Ann Oncol 2013; 2013: iii31-iii31 Available from: URL: http: //annonc.oxfordjournals.org/content/24/suppl-3/iii31.1.extract