Skip to main content
Erschienen in: Tumor Biology 9/2014

01.09.2014 | Review

Diagnostic tests based on gene expression profile in breast cancer: from background to clinical use

verfasst von: Laura Zanotti, Alberto Bottini, Camillo Rossi, Daniele Generali, Maria Rosa Cappelletti

Erschienen in: Tumor Biology | Ausgabe 9/2014

Einloggen, um Zugang zu erhalten

Abstract

Breast cancer is a complex disease with heterogeneous presentation and clinical course. The last decade has witnessed the development, commercialization, and increasing use of multigene assays, designed to support physicians and patients in clinical decision making in early-stage breast cancer. These include Oncotype DX®, MammaPrint®, and Prosigna™ assays. The assays differ in the technological platforms used for assessment of gene expression, in the number of genes and in the specific genes that are being tested, in the patient populations used for their development and validation, and in their clinical utility. This review focuses on these three commercialized assays, their development, validation, and clinical utility. The review also addresses ongoing prospective trials investigating these assays and health-economic considerations relating to their use.
Literatur
1.
2.
Zurück zum Zitat Early Breast Cancer Trialists’ Collaborative G. Effects of chemotherapy and hormonal therapy for early breast cancer on recurrence and 15-year survival: an overview of the randomised trials. Lancet. 2005;365:1687–717.CrossRef Early Breast Cancer Trialists’ Collaborative G. Effects of chemotherapy and hormonal therapy for early breast cancer on recurrence and 15-year survival: an overview of the randomised trials. Lancet. 2005;365:1687–717.CrossRef
3.
4.
Zurück zum Zitat Bastien RR, Rodriguez-Lescure A, Ebbert MT, Prat A, Munarriz B, Rowe L, et al. Pam50 breast cancer subtyping by RT-qPCR and concordance with standard clinical molecular markers. BMC Med Genet. 2012;5:44. Bastien RR, Rodriguez-Lescure A, Ebbert MT, Prat A, Munarriz B, Rowe L, et al. Pam50 breast cancer subtyping by RT-qPCR and concordance with standard clinical molecular markers. BMC Med Genet. 2012;5:44.
5.
Zurück zum Zitat Goldhirsch A, Wood WC, Coates AS, Gelber RD, Thurlimann B, Senn HJ. Strategies for subtypes—dealing with the diversity of breast cancer: highlights of the St. Gallen international expert consensus on the primary therapy of early breast cancer 2011. Ann Oncol. 2011;22:1736–47.PubMedCentralCrossRefPubMed Goldhirsch A, Wood WC, Coates AS, Gelber RD, Thurlimann B, Senn HJ. Strategies for subtypes—dealing with the diversity of breast cancer: highlights of the St. Gallen international expert consensus on the primary therapy of early breast cancer 2011. Ann Oncol. 2011;22:1736–47.PubMedCentralCrossRefPubMed
6.
Zurück zum Zitat NCCN-breast_2.2014. NCCN clinical practice guidelines in oncology. Breast cancer. Version 2.2014. 2014. NCCN-breast_2.2014. NCCN clinical practice guidelines in oncology. Breast cancer. Version 2.2014. 2014.
7.
Zurück zum Zitat Varga Z, Diebold J, Dommann-Scherrer C, Frick H, Kaup D, Noske A, et al. How reliable is Ki-67 immunohistochemistry in grade 2 breast carcinomas? A QA study of the Swiss working group of breast- and gynecopathologists. PLoS One. 2012;7:e37379.PubMedCentralCrossRefPubMed Varga Z, Diebold J, Dommann-Scherrer C, Frick H, Kaup D, Noske A, et al. How reliable is Ki-67 immunohistochemistry in grade 2 breast carcinomas? A QA study of the Swiss working group of breast- and gynecopathologists. PLoS One. 2012;7:e37379.PubMedCentralCrossRefPubMed
8.
Zurück zum Zitat Polley MY, Leung SC, McShane LM, Gao D, Hugh JC, Mastropasqua MG, et al. International Ki67 in Breast Cancer Working Group of the Breast International G, North American Breast Cancer G: an international ki67 reproducibility study. J Natl Cancer Inst. 2013;105:1897–906.PubMedCentralCrossRefPubMed Polley MY, Leung SC, McShane LM, Gao D, Hugh JC, Mastropasqua MG, et al. International Ki67 in Breast Cancer Working Group of the Breast International G, North American Breast Cancer G: an international ki67 reproducibility study. J Natl Cancer Inst. 2013;105:1897–906.PubMedCentralCrossRefPubMed
9.
Zurück zum Zitat Viale G, Regan MM, Mastropasqua MG, Maffini F, Maiorano E, Colleoni M, et al. Predictive value of tumor ki-67 expression in two randomized trials of adjuvant chemoendocrine therapy for node-negative breast cancer. J Natl Cancer Inst. 2008;100:207–12.CrossRefPubMed Viale G, Regan MM, Mastropasqua MG, Maffini F, Maiorano E, Colleoni M, et al. Predictive value of tumor ki-67 expression in two randomized trials of adjuvant chemoendocrine therapy for node-negative breast cancer. J Natl Cancer Inst. 2008;100:207–12.CrossRefPubMed
10.
Zurück zum Zitat Paik S, Shak S, Tang G, Kim C, Baker J, Cronin M, et al. A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. N Engl J Med. 2004;351:2817–26.CrossRefPubMed Paik S, Shak S, Tang G, Kim C, Baker J, Cronin M, et al. A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. N Engl J Med. 2004;351:2817–26.CrossRefPubMed
11.
Zurück zum Zitat Paik S, Tang G, Shak S, Kim C, Baker J, Kim W, et al. Gene expression and benefit of chemotherapy in women with node-negative, estrogen receptor-positive breast cancer. J Clin Oncol. 2006;24:3726–34.CrossRefPubMed Paik S, Tang G, Shak S, Kim C, Baker J, Kim W, et al. Gene expression and benefit of chemotherapy in women with node-negative, estrogen receptor-positive breast cancer. J Clin Oncol. 2006;24:3726–34.CrossRefPubMed
12.
Zurück zum Zitat Habel LA, Shak S, Jacobs MK, Capra A, Alexander C, Pho M, et al. A population-based study of tumor gene expression and risk of breast cancer death among lymph node-negative patients. Breast Cancer Res. 2006;8:R25.PubMedCentralCrossRefPubMed Habel LA, Shak S, Jacobs MK, Capra A, Alexander C, Pho M, et al. A population-based study of tumor gene expression and risk of breast cancer death among lymph node-negative patients. Breast Cancer Res. 2006;8:R25.PubMedCentralCrossRefPubMed
13.
Zurück zum Zitat Goldstein LJ, Gray R, Badve S, Childs BH, Yoshizawa C, Rowley S, et al. Prognostic utility of the 21-gene assay in hormone receptor-positive operable breast cancer compared with classical clinicopathologic features. J Clin Oncol. 2008;26:4063–71.PubMedCentralCrossRefPubMed Goldstein LJ, Gray R, Badve S, Childs BH, Yoshizawa C, Rowley S, et al. Prognostic utility of the 21-gene assay in hormone receptor-positive operable breast cancer compared with classical clinicopathologic features. J Clin Oncol. 2008;26:4063–71.PubMedCentralCrossRefPubMed
14.
Zurück zum Zitat Albain KS, Barlow WE, Shak S, Hortobagyi GN, Livingston RB, Yeh IT, et al. 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.PubMedCentralCrossRefPubMed Albain KS, Barlow WE, Shak S, Hortobagyi GN, Livingston RB, Yeh IT, et al. 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.PubMedCentralCrossRefPubMed
15.
Zurück zum Zitat Dowsett M, Cuzick J, Wale C, Forbes J, Mallon EA, Salter J, et al. Prediction of risk of distant recurrence using the 21-gene recurrence score in node-negative and node-positive postmenopausal patients with breast cancer treated with anastrozole or tamoxifen: a transatac study. J Clin Oncol. 2010;28:1829–34.CrossRefPubMed Dowsett M, Cuzick J, Wale C, Forbes J, Mallon EA, Salter J, et al. Prediction of risk of distant recurrence using the 21-gene recurrence score in node-negative and node-positive postmenopausal patients with breast cancer treated with anastrozole or tamoxifen: a transatac study. J Clin Oncol. 2010;28:1829–34.CrossRefPubMed
16.
Zurück zum Zitat Toi M, Iwata H, Yamanaka T, Masuda N, Ohno S, Nakamura S, et al. Clinical significance of the 21-gene signature (oncotype dx) in hormone receptor-positive early stage primary breast cancer in the Japanese population. Cancer. 2010;116:3112–8.CrossRefPubMed Toi M, Iwata H, Yamanaka T, Masuda N, Ohno S, Nakamura S, et al. Clinical significance of the 21-gene signature (oncotype dx) in hormone receptor-positive early stage primary breast cancer in the Japanese population. Cancer. 2010;116:3112–8.CrossRefPubMed
17.
Zurück zum Zitat Mamounas EP, Tang G, Paik S, Baehner FL, Liu Q, Jeong J-H, et al. Association between the 21-gene recurrence score (rs) and benefit from adjuvant paclitaxel (pac) in node-positive (n+), er-positive breast cancer patients (pts): Results from nsabp b-28: San Antonio Breast Cancer Symposium (SABCS). San Antonio, TX, 2012. Mamounas EP, Tang G, Paik S, Baehner FL, Liu Q, Jeong J-H, et al. Association between the 21-gene recurrence score (rs) and benefit from adjuvant paclitaxel (pac) in node-positive (n+), er-positive breast cancer patients (pts): Results from nsabp b-28: San Antonio Breast Cancer Symposium (SABCS). San Antonio, TX, 2012.
18.
Zurück zum Zitat ClinicalTrials.gov. Clinicaltrials.Gov website. Description of the tailorx trial., 2013. ClinicalTrials.gov. Clinicaltrials.Gov website. Description of the tailorx trial., 2013.
19.
Zurück zum Zitat ClinicalTrials.gov. Clinicaltrials.Gov website. Description of the rxponder trial., 2013. ClinicalTrials.gov. Clinicaltrials.Gov website. Description of the rxponder trial., 2013.
20.
Zurück zum Zitat Yardley DA, Peacock NA, Hendricks C, Huh SY, Ketchum S, Chao C, et al. Correlation of oncotype dx recurrence scores with pathologic response following neoadjuvant ixabepilone and cyclophosphamide in patients with her2–negative breast cancer: a Sarah Cannon Research Institute phase ii trial. Cancer Res. 2011;71(24 Suppl):Abstract nr P5-13-09. Yardley DA, Peacock NA, Hendricks C, Huh SY, Ketchum S, Chao C, et al. Correlation of oncotype dx recurrence scores with pathologic response following neoadjuvant ixabepilone and cyclophosphamide in patients with her2–negative breast cancer: a Sarah Cannon Research Institute phase ii trial. Cancer Res. 2011;71(24 Suppl):Abstract nr P5-13-09.
21.
Zurück zum Zitat Chang JC, Makris A, Gutierrez MC, Hilsenbeck SG, Hackett JR, Jeong J, et al. Gene expression patterns in formalin-fixed, paraffin-embedded core biopsies predict docetaxel chemosensitivity in breast cancer patients. Breast Cancer Res Treat. 2008;108:233–40.CrossRefPubMed Chang JC, Makris A, Gutierrez MC, Hilsenbeck SG, Hackett JR, Jeong J, et al. Gene expression patterns in formalin-fixed, paraffin-embedded core biopsies predict docetaxel chemosensitivity in breast cancer patients. Breast Cancer Res Treat. 2008;108:233–40.CrossRefPubMed
22.
Zurück zum Zitat Gianni L, Zambetti M, Clark K, Baker J, Cronin M, Wu J, et al. Gene expression profiles in paraffin-embedded core biopsy tissue predict response to chemotherapy in women with locally advanced breast cancer. J Clin Oncol. 2005;23:7265–77.CrossRefPubMed Gianni L, Zambetti M, Clark K, Baker J, Cronin M, Wu J, et al. Gene expression profiles in paraffin-embedded core biopsy tissue predict response to chemotherapy in women with locally advanced breast cancer. J Clin Oncol. 2005;23:7265–77.CrossRefPubMed
23.
Zurück zum Zitat Carlson JJ, Roth JA. The impact of the Oncotype DX breast cancer assay in clinical practice: a systematic review and meta-analysis. Breast Cancer Res Treat. 2013;141:13–22.PubMedCentralCrossRefPubMed Carlson JJ, Roth JA. The impact of the Oncotype DX breast cancer assay in clinical practice: a systematic review and meta-analysis. Breast Cancer Res Treat. 2013;141:13–22.PubMedCentralCrossRefPubMed
24.
Zurück zum Zitat Albanell J, Gonzalez A, Ruiz-Borrego M, Alba E, Garcia-Saenz JA, Corominas JM, et al. Prospective transGEICAM study of the impact of the 21-gene recurrence score assay and traditional clinicopathological factors on adjuvant clinical decision making in women with estrogen receptor-positive (er+) node-negative breast cancer. Ann Oncol. 2012;23:625–31.CrossRefPubMed Albanell J, Gonzalez A, Ruiz-Borrego M, Alba E, Garcia-Saenz JA, Corominas JM, et al. Prospective transGEICAM study of the impact of the 21-gene recurrence score assay and traditional clinicopathological factors on adjuvant clinical decision making in women with estrogen receptor-positive (er+) node-negative breast cancer. Ann Oncol. 2012;23:625–31.CrossRefPubMed
25.
Zurück zum Zitat Davidson JA, Cromwell I, Ellard SL, Lohrisch C, Gelmon KA, Shenkier T, et al. A prospective clinical utility and pharmacoeconomic study of the impact of the 21-gene recurrence score(r) assay in oestrogen receptor positive node negative breast cancer. Eur J Cancer. 2013. Davidson JA, Cromwell I, Ellard SL, Lohrisch C, Gelmon KA, Shenkier T, et al. A prospective clinical utility and pharmacoeconomic study of the impact of the 21-gene recurrence score(r) assay in oestrogen receptor positive node negative breast cancer. Eur J Cancer. 2013.
26.
Zurück zum Zitat Lo SS, Mumby PB, Norton J, Rychlik K, Smerage J, Kash J, et al. 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;28:1671–6.CrossRefPubMed Lo SS, Mumby PB, Norton J, Rychlik K, Smerage J, Kash J, et al. 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;28:1671–6.CrossRefPubMed
27.
Zurück zum Zitat Asad J, Jacobson AF, Estabrook A, Smith SR, Boolbol SK, Feldman SM, et al. Does oncotype DX recurrence score affect the management of patients with early-stage breast cancer? Am J Surg. 2008;196:527–9.CrossRefPubMed Asad J, Jacobson AF, Estabrook A, Smith SR, Boolbol SK, Feldman SM, et al. Does oncotype DX recurrence score affect the management of patients with early-stage breast cancer? Am J Surg. 2008;196:527–9.CrossRefPubMed
28.
Zurück zum Zitat Klang SH, Hammerman A, Liebermann N, Efrat N, Doberne J, Hornberger J. Economic implications of 21-gene breast cancer risk assay from the perspective of an Israeli-managed health-care organization. Value Health. 2010;13:381–7.CrossRefPubMed Klang SH, Hammerman A, Liebermann N, Efrat N, Doberne J, Hornberger J. Economic implications of 21-gene breast cancer risk assay from the perspective of an Israeli-managed health-care organization. Value Health. 2010;13:381–7.CrossRefPubMed
29.
Zurück zum Zitat Oratz R, Paul D, Cohn AL, Sedlacek SM. Impact of a commercial reference laboratory test recurrence score on decision making in early-stage breast cancer. J Oncol Pract. 2007;3:182–6.PubMedCentralCrossRefPubMed Oratz R, Paul D, Cohn AL, Sedlacek SM. Impact of a commercial reference laboratory test recurrence score on decision making in early-stage breast cancer. J Oncol Pract. 2007;3:182–6.PubMedCentralCrossRefPubMed
30.
Zurück zum Zitat Gligorov J, Pivot XB, Naman HL, Jacot W, Spaeth D, MJ L, et al. Prospective study of the impact of using the 21-gene recurrence score assay on clinical decision making in women with estrogen receptor positive, her2-negative, early-stage breast cancer in France.: American Society of Clinical Oncology (ASCO) Annual Meeting Chicago, IL, 2012, pp Poster 568. Gligorov J, Pivot XB, Naman HL, Jacot W, Spaeth D, MJ L, et al. Prospective study of the impact of using the 21-gene recurrence score assay on clinical decision making in women with estrogen receptor positive, her2-negative, early-stage breast cancer in France.: American Society of Clinical Oncology (ASCO) Annual Meeting Chicago, IL, 2012, pp Poster 568.
31.
Zurück zum Zitat Holt S, Bertelli G, Humphreys I, Valentine W, Durrani S, Pudney D, et al. A decision impact, decision conflict and economic assessment of routine oncotype dx testing of 146 women with node-negative or pNImi, ER-positive breast cancer in the UK. Br J Cancer. 2013;108:2250–8.PubMedCentralCrossRefPubMed Holt S, Bertelli G, Humphreys I, Valentine W, Durrani S, Pudney D, et al. A decision impact, decision conflict and economic assessment of routine oncotype dx testing of 146 women with node-negative or pNImi, ER-positive breast cancer in the UK. Br J Cancer. 2013;108:2250–8.PubMedCentralCrossRefPubMed
32.
Zurück zum Zitat Eiermann W, Rezai M, Kummel S, Kuhn T, Warm M, Friedrichs K, et al. The 21-gene recurrence score assay impacts adjuvant therapy recommendations for ER-positive, node-negative and node-positive early breast cancer resulting in a risk-adapted change in chemotherapy use. Ann Oncol. 2013;24:618–24.PubMedCentralCrossRefPubMed Eiermann W, Rezai M, Kummel S, Kuhn T, Warm M, Friedrichs K, et al. The 21-gene recurrence score assay impacts adjuvant therapy recommendations for ER-positive, node-negative and node-positive early breast cancer resulting in a risk-adapted change in chemotherapy use. Ann Oncol. 2013;24:618–24.PubMedCentralCrossRefPubMed
33.
Zurück zum Zitat Bargallo JER, Lara F, Shaw Dulin RJ, Perez-Sánchez V, Villarreal-Garza C, Maldonado-Martinez H, et al. A study of the impact of the 21-gene breast cancer assay on the use of adjuvant chemotherapy in women with breast cancer in a Mexican public hospital: European Society for Medical Oncology 2012 Congress. Vienna, Austria 2012. Bargallo JER, Lara F, Shaw Dulin RJ, Perez-Sánchez V, Villarreal-Garza C, Maldonado-Martinez H, et al. A study of the impact of the 21-gene breast cancer assay on the use of adjuvant chemotherapy in women with breast cancer in a Mexican public hospital: European Society for Medical Oncology 2012 Congress. Vienna, Austria 2012.
34.
Zurück zum Zitat de Boer RH, Baker C, Speakman D, Chao CY, Yoshizawa C, Mann GB. The impact of a genomic assay (oncotype dx) on adjuvant treatment recommendations in early breast cancer. Med J Aust. 2013;199:205–8.CrossRefPubMed de Boer RH, Baker C, Speakman D, Chao CY, Yoshizawa C, Mann GB. The impact of a genomic assay (oncotype dx) on adjuvant treatment recommendations in early breast cancer. Med J Aust. 2013;199:205–8.CrossRefPubMed
35.
Zurück zum Zitat Yamauchi H, Nakagawa C, Takei H, Chao C, Yoshizawa C, Yagata H, et al. Prospective study of the effect of the 21-gene assay on adjuvant clinical decision-making in Japanese women with estrogen receptor-positive, node-negative, and node-positive breast cancer. Clin Breast Cancer. 2013. Yamauchi H, Nakagawa C, Takei H, Chao C, Yoshizawa C, Yagata H, et al. Prospective study of the effect of the 21-gene assay on adjuvant clinical decision-making in Japanese women with estrogen receptor-positive, node-negative, and node-positive breast cancer. Clin Breast Cancer. 2013.
36.
Zurück zum Zitat Oratz R, Kim B, Chao C, Skrzypczak S, Ory C, Bugarini R, et al. Physician survey of the effect of the 21-gene recurrence score assay results on treatment recommendations for patients with lymph node-positive, estrogen receptor-positive breast cancer. J Oncol Pract. 2011;7:94–9.PubMedCentralCrossRefPubMed Oratz R, Kim B, Chao C, Skrzypczak S, Ory C, Bugarini R, et al. Physician survey of the effect of the 21-gene recurrence score assay results on treatment recommendations for patients with lymph node-positive, estrogen receptor-positive breast cancer. J Oncol Pract. 2011;7:94–9.PubMedCentralCrossRefPubMed
37.
Zurück zum Zitat Geffen DB, Abu-Ghanem S, Sion-Vardy N, Braunstein R, Tokar M, Ariad S, et al. The impact of the 21-gene recurrence score assay on decision making about adjuvant chemotherapy in early-stage estrogen-receptor-positive breast cancer in an oncology practice with a unified treatment policy. Ann Oncol. 2011;22:2381–6.CrossRefPubMed Geffen DB, Abu-Ghanem S, Sion-Vardy N, Braunstein R, Tokar M, Ariad S, et al. The impact of the 21-gene recurrence score assay on decision making about adjuvant chemotherapy in early-stage estrogen-receptor-positive breast cancer in an oncology practice with a unified treatment policy. Ann Oncol. 2011;22:2381–6.CrossRefPubMed
38.
Zurück zum Zitat Stemmer SM, Klang SH, Ben-Baruch N, Geffen DB, Steiner M, Soussan-Gutman L, et al. The impact of the 21-gene recurrence score assay on clinical decision-making in node-positive (up to 3 positive nodes) estrogen receptor-positive breast cancer patients. Breast Cancer Res Treat. 2013;140:83–92.PubMedCentralCrossRefPubMed Stemmer SM, Klang SH, Ben-Baruch N, Geffen DB, Steiner M, Soussan-Gutman L, et al. The impact of the 21-gene recurrence score assay on clinical decision-making in node-positive (up to 3 positive nodes) estrogen receptor-positive breast cancer patients. Breast Cancer Res Treat. 2013;140:83–92.PubMedCentralCrossRefPubMed
39.
Zurück zum Zitat Kuchel A, Robinson T, Comins C, Shere M, Varughese M, Sparrow G, et al. A prospective multi-centre study of the impact of oncotype dx® on adjuvant treatment decisions in patients in the UK with oestrogen receptor positive early breast cancer: European Society for Medical Oncology 2013 Congress. Amsterdam, The Netherlands, 2013. Kuchel A, Robinson T, Comins C, Shere M, Varughese M, Sparrow G, et al. A prospective multi-centre study of the impact of oncotype dx® on adjuvant treatment decisions in patients in the UK with oestrogen receptor positive early breast cancer: European Society for Medical Oncology 2013 Congress. Amsterdam, The Netherlands, 2013.
40.
Zurück zum Zitat Simon R. Roadmap for developing and validating therapeutically relevant genomic classifiers. J Clin Oncol. 2005;23:7332–41.CrossRefPubMed Simon R. Roadmap for developing and validating therapeutically relevant genomic classifiers. J Clin Oncol. 2005;23:7332–41.CrossRefPubMed
41.
Zurück zum Zitat Senkus E, Kyriakides S, Penault-Llorca F, Poortmans P, Thompson A, Zackrisson S, et al. Primary breast cancer: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2013;24 Suppl 6:vi7–23.CrossRefPubMed Senkus E, Kyriakides S, Penault-Llorca F, Poortmans P, Thompson A, Zackrisson S, et al. Primary breast cancer: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2013;24 Suppl 6:vi7–23.CrossRefPubMed
42.
Zurück zum Zitat Goldhirsch A, Winer EP, Coates AS, Gelber RD, Piccart-Gebhart M, Thurlimann B, et al. Personalizing the treatment of women with early breast cancer: highlights of the St Gallen international expert consensus on the primary therapy of early breast cancer 2013. Ann Oncol. 2013;24:2206–23.PubMedCentralCrossRefPubMed Goldhirsch A, Winer EP, Coates AS, Gelber RD, Piccart-Gebhart M, Thurlimann B, et al. Personalizing the treatment of women with early breast cancer: highlights of the St Gallen international expert consensus on the primary therapy of early breast cancer 2013. Ann Oncol. 2013;24:2206–23.PubMedCentralCrossRefPubMed
43.
Zurück zum Zitat Harris L, Fritsche H, Mennel R, Norton L, Ravdin P, Taube S, et al. American Society of clinical oncology 2007 update of recommendations for the use of tumor markers in breast cancer. J Clin Oncol. 2007;25:5287–312.CrossRefPubMed Harris L, Fritsche H, Mennel R, Norton L, Ravdin P, Taube S, et al. American Society of clinical oncology 2007 update of recommendations for the use of tumor markers in breast cancer. J Clin Oncol. 2007;25:5287–312.CrossRefPubMed
45.
Zurück zum Zitat NICE. Diagnostic guidance document: gene expression profiling and expanded immunohistochemistry tests for guiding adjuvant chemotherapy decisions in early breast cancer management: Mammaprint, oncotype dx, ihc4 and mammostrat, 2013. NICE. Diagnostic guidance document: gene expression profiling and expanded immunohistochemistry tests for guiding adjuvant chemotherapy decisions in early breast cancer management: Mammaprint, oncotype dx, ihc4 and mammostrat, 2013.
46.
Zurück zum Zitat van ‘t Veer LJ, Dai H, van de Vijver MJ, He YD, Hart AA, Mao M, et al. Gene expression profiling predicts clinical outcome of breast cancer. Nature. 2002;415:530–6.CrossRef van ‘t Veer LJ, Dai H, van de Vijver MJ, He YD, Hart AA, Mao M, et al. Gene expression profiling predicts clinical outcome of breast cancer. Nature. 2002;415:530–6.CrossRef
47.
Zurück zum Zitat MammaPrint_FDA_Approval. Mammaprint fda approval. 510(k) substantial equivalence determination decision summary., 2007. MammaPrint_FDA_Approval. Mammaprint fda approval. 510(k) substantial equivalence determination decision summary., 2007.
48.
Zurück zum Zitat van de Vijver MJ, He YD, van’t Veer LJ, Dai H, Hart AA, Voskuil DW, et al. A gene-expression signature as a predictor of survival in breast cancer. N Engl J Med. 2002;347:1999–2009.CrossRefPubMed van de Vijver MJ, He YD, van’t Veer LJ, Dai H, Hart AA, Voskuil DW, et al. A gene-expression signature as a predictor of survival in breast cancer. N Engl J Med. 2002;347:1999–2009.CrossRefPubMed
49.
Zurück zum Zitat Buyse M, Loi S, van’t Veer L, Viale G, Delorenzi M, Glas AM, et al. Validation and clinical utility of a 70-gene prognostic signature for women with node-negative breast cancer. J Natl Cancer Inst. 2006;98:1183–92.CrossRefPubMed Buyse M, Loi S, van’t Veer L, Viale G, Delorenzi M, Glas AM, et al. Validation and clinical utility of a 70-gene prognostic signature for women with node-negative breast cancer. J Natl Cancer Inst. 2006;98:1183–92.CrossRefPubMed
50.
Zurück zum Zitat Bueno-de-Mesquita JM, Linn SC, Keijzer R, Wesseling J, Nuyten DS, van Krimpen C, et al. Validation of 70-gene prognosis signature in node-negative breast cancer. Breast Cancer Res Treat. 2009;117:483–95.CrossRefPubMed Bueno-de-Mesquita JM, Linn SC, Keijzer R, Wesseling J, Nuyten DS, van Krimpen C, et al. Validation of 70-gene prognosis signature in node-negative breast cancer. Breast Cancer Res Treat. 2009;117:483–95.CrossRefPubMed
51.
Zurück zum Zitat Bueno-de-Mesquita JM, van Harten WH, Retel VP, van’t Veer LJ, van Dam FS, Karsenberg K, et al. Use of 70-gene signature to predict prognosis of patients with node-negative breast cancer: a prospective community-based feasibility study (RASTER). Lancet Oncol. 2007;8:1079–87.CrossRefPubMed Bueno-de-Mesquita JM, van Harten WH, Retel VP, van’t Veer LJ, van Dam FS, Karsenberg K, et al. Use of 70-gene signature to predict prognosis of patients with node-negative breast cancer: a prospective community-based feasibility study (RASTER). Lancet Oncol. 2007;8:1079–87.CrossRefPubMed
52.
Zurück zum Zitat Mook S, Schmidt MK, Viale G, Pruneri G, Eekhout I, Floore A, et al. The 70-gene prognosis-signature predicts disease outcome in breast cancer patients with 1-3 positive lymph nodes in an independent validation study. Breast Cancer Res Treat. 2009;116:295–302.CrossRefPubMed Mook S, Schmidt MK, Viale G, Pruneri G, Eekhout I, Floore A, et al. The 70-gene prognosis-signature predicts disease outcome in breast cancer patients with 1-3 positive lymph nodes in an independent validation study. Breast Cancer Res Treat. 2009;116:295–302.CrossRefPubMed
53.
Zurück zum Zitat Mook S, Schmidt MK, Weigelt B, Kreike B, Eekhout I, van de Vijver MJ, et al. The 70-gene prognosis signature predicts early metastasis in breast cancer patients between 55 and 70 years of age. Ann Oncol. 2010;21:717–22.CrossRefPubMed Mook S, Schmidt MK, Weigelt B, Kreike B, Eekhout I, van de Vijver MJ, et al. The 70-gene prognosis signature predicts early metastasis in breast cancer patients between 55 and 70 years of age. Ann Oncol. 2010;21:717–22.CrossRefPubMed
54.
Zurück zum Zitat Sapino A, Roepman P, Linn SC, Snel MH, Delahaye LJ, van den Akker J, et al. Mammaprint molecular diagnostics on formalin-fixed, paraffin-embedded tissue. J Mol Diagn 2013. Sapino A, Roepman P, Linn SC, Snel MH, Delahaye LJ, van den Akker J, et al. Mammaprint molecular diagnostics on formalin-fixed, paraffin-embedded tissue. J Mol Diagn 2013.
55.
Zurück zum Zitat Mook S, Knauer M, Bueno-de-Mesquita JM, Retel VP, Wesseling J, Linn SC, et al. Metastatic potential of t1 breast cancer can be predicted by the 70-gene mammaprint signature. Ann Surg Oncol. 2010;17:1406–13.CrossRefPubMed Mook S, Knauer M, Bueno-de-Mesquita JM, Retel VP, Wesseling J, Linn SC, et al. Metastatic potential of t1 breast cancer can be predicted by the 70-gene mammaprint signature. Ann Surg Oncol. 2010;17:1406–13.CrossRefPubMed
56.
Zurück zum Zitat Drukker CA, Bueno-de-Mesquita JM, Retel VP, van Harten WH, van Tinteren H, Wesseling J, et al. A prospective evaluation of a breast cancer prognosis signature in the observational RASTER study. Int J Cancer J Int Cancer. 2013;133:929–36.CrossRef Drukker CA, Bueno-de-Mesquita JM, Retel VP, van Harten WH, van Tinteren H, Wesseling J, et al. A prospective evaluation of a breast cancer prognosis signature in the observational RASTER study. Int J Cancer J Int Cancer. 2013;133:929–36.CrossRef
57.
Zurück zum Zitat Knauer M, Mook S, Rutgers EJ, Bender RA, Hauptmann M, van de Vijver MJ, et al. The predictive value of the 70-gene signature for adjuvant chemotherapy in early breast cancer. Breast Cancer Res Treat. 2010;120:655–61.CrossRefPubMed Knauer M, Mook S, Rutgers EJ, Bender RA, Hauptmann M, van de Vijver MJ, et al. The predictive value of the 70-gene signature for adjuvant chemotherapy in early breast cancer. Breast Cancer Res Treat. 2010;120:655–61.CrossRefPubMed
58.
Zurück zum Zitat ClinicalTrials.gov. Clinicaltrials.Gov website. Description of the mindact trial., 2013. ClinicalTrials.gov. Clinicaltrials.Gov website. Description of the mindact trial., 2013.
59.
Zurück zum Zitat Rutgers E, Piccart-Gebhart MJ, Bogaerts J, Delaloge S, Veer LV, Rubio IT, et al. The EORTC 10041/big 03–04 MINDACT trial is feasible: results of the pilot phase. Eur J Cancer. 2011;47:2742–9.CrossRefPubMed Rutgers E, Piccart-Gebhart MJ, Bogaerts J, Delaloge S, Veer LV, Rubio IT, et al. The EORTC 10041/big 03–04 MINDACT trial is feasible: results of the pilot phase. Eur J Cancer. 2011;47:2742–9.CrossRefPubMed
60.
Zurück zum Zitat Parker JS, Mullins M, Cheang MC, Leung S, Voduc D, Vickery T, et al. Supervised risk predictor of breast cancer based on intrinsic subtypes. J Clin Oncol. 2009;27:1160–7.PubMedCentralCrossRefPubMed Parker JS, Mullins M, Cheang MC, Leung S, Voduc D, Vickery T, et al. Supervised risk predictor of breast cancer based on intrinsic subtypes. J Clin Oncol. 2009;27:1160–7.PubMedCentralCrossRefPubMed
61.
Zurück zum Zitat Prosigna. Prosigna [package insert]. Seattle, WA; nanostring technologies, Inc.; 2013. Prosigna. Prosigna [package insert]. Seattle, WA; nanostring technologies, Inc.; 2013.
62.
Zurück zum Zitat Gnant M, Filipits M, Greil R, Stoeger H, Rudas M, Bago-Horvath Z, et al. 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. 2013. Gnant M, Filipits M, Greil R, Stoeger H, Rudas M, Bago-Horvath Z, et al. 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. 2013.
63.
Zurück zum Zitat Gnant M, Dowsett M, Filipits M, Lopez-Knowles E, Greil R, Balic M, et al. Identifying clinically relevant prognostic subgroups in node-positive postmenopausal hr+ early breast cancer patients treated with endocrine therapy: a combined analysis of 2,485 patients from abcsg-8 and atac using the pam50 risk of recurrence (ror) score and intrinsic subtype. J Clin Oncol. 2013;31. Gnant M, Dowsett M, Filipits M, Lopez-Knowles E, Greil R, Balic M, et al. Identifying clinically relevant prognostic subgroups in node-positive postmenopausal hr+ early breast cancer patients treated with endocrine therapy: a combined analysis of 2,485 patients from abcsg-8 and atac using the pam50 risk of recurrence (ror) score and intrinsic subtype. J Clin Oncol. 2013;31.
64.
Zurück zum Zitat Filipits M, Nielsen TO, Rudas M, Greil R, Stoger H, Jakesz R, et al. The pam50 risk-of-recurrence score predicts risk for late distant recurrence after endocrine therapy in postmenopausal women with endocrine-responsive early breast cancer. Clin Cancer Res. 2014;20:1298–305.CrossRefPubMed Filipits M, Nielsen TO, Rudas M, Greil R, Stoger H, Jakesz R, et al. The pam50 risk-of-recurrence score predicts risk for late distant recurrence after endocrine therapy in postmenopausal women with endocrine-responsive early breast cancer. Clin Cancer Res. 2014;20:1298–305.CrossRefPubMed
65.
Zurück zum Zitat Dowsett M, Sestak I, Lopez-Knowles E, Sidhu K, Dunbier AK, Cowens JW, et al. 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;31:2783–90.CrossRefPubMed Dowsett M, Sestak I, Lopez-Knowles E, Sidhu K, Dunbier AK, Cowens JW, et al. 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;31:2783–90.CrossRefPubMed
66.
Zurück zum Zitat Kelly CM, Bernard PS, Krishnamurthy S, Wang B, Ebbert MT, Bastien RR, et al. Agreement in risk prediction between the 21-gene recurrence score assay (oncotype dx(r)) and the pam50 breast cancer intrinsic classifier in early-stage estrogen receptor-positive breast cancer. Oncologist. 2012;17:492–8.PubMedCentralCrossRefPubMed Kelly CM, Bernard PS, Krishnamurthy S, Wang B, Ebbert MT, Bastien RR, et al. Agreement in risk prediction between the 21-gene recurrence score assay (oncotype dx(r)) and the pam50 breast cancer intrinsic classifier in early-stage estrogen receptor-positive breast cancer. Oncologist. 2012;17:492–8.PubMedCentralCrossRefPubMed
67.
Zurück zum Zitat Dabbs DJ, Klein ME, Mohsin SK, Tubbs RR, Shuai Y, Bhargava R. High false-negative rate of her2 quantitative reverse transcription polymerase chain reaction of the oncotype dx test: an independent quality assurance study. J Clin Oncol. 2011;29:4279–85.CrossRefPubMed Dabbs DJ, Klein ME, Mohsin SK, Tubbs RR, Shuai Y, Bhargava R. High false-negative rate of her2 quantitative reverse transcription polymerase chain reaction of the oncotype dx test: an independent quality assurance study. J Clin Oncol. 2011;29:4279–85.CrossRefPubMed
68.
Zurück zum Zitat Hammond ME, Hayes DF, Dowsett M, Allred DC, Hagerty KL, Badve S, et al. American society of clinical oncology/college of american pathologists guideline recommendations for immunohistochemical testing of estrogen and progesterone receptors in breast cancer. J Clin Oncol. 2010;28:2784–95.PubMedCentralCrossRefPubMed Hammond ME, Hayes DF, Dowsett M, Allred DC, Hagerty KL, Badve S, et al. American society of clinical oncology/college of american pathologists guideline recommendations for immunohistochemical testing of estrogen and progesterone receptors in breast cancer. J Clin Oncol. 2010;28:2784–95.PubMedCentralCrossRefPubMed
69.
Zurück zum Zitat Early Breast Cancer Trialists’ Collaborative G, Peto R, Davies C, Godwin J, Gray R, Pan HC, et al. Comparisons between different polychemotherapy regimens for early breast cancer: meta-analyses of long-term outcome among 100,000 women in 123 randomised trials. Lancet. 2012;379:432–44.CrossRef Early Breast Cancer Trialists’ Collaborative G, Peto R, Davies C, Godwin J, Gray R, Pan HC, et al. Comparisons between different polychemotherapy regimens for early breast cancer: meta-analyses of long-term outcome among 100,000 women in 123 randomised trials. Lancet. 2012;379:432–44.CrossRef
70.
Zurück zum Zitat Lacey L, Chien R, Hornberger J. Cost-utility of the 21-gene breast cancer assay (Oncotype DX®) in the Irish healthcare setting.: San Antonio Breast Cancer Symposium (SABCS). San Antonio, TX, 2011, pp P1-10-04. Lacey L, Chien R, Hornberger J. Cost-utility of the 21-gene breast cancer assay (Oncotype DX®) in the Irish healthcare setting.: San Antonio Breast Cancer Symposium (SABCS). San Antonio, TX, 2011, pp P1-10-04.
71.
Zurück zum Zitat Tsoi DT, Inoue M, Kelly CM, Verma S, Pritchard KI. Cost-effectiveness analysis of recurrence score-guided treatment using a 21-gene assay in early breast cancer. Oncologist. 2010;15:457–65.PubMedCentralCrossRefPubMed Tsoi DT, Inoue M, Kelly CM, Verma S, Pritchard KI. Cost-effectiveness analysis of recurrence score-guided treatment using a 21-gene assay in early breast cancer. Oncologist. 2010;15:457–65.PubMedCentralCrossRefPubMed
72.
Zurück zum Zitat Paulden M, Franek J, Pham B, Krahn M. Gene expression profiling for guiding adjuvant chemotherapy decisions in women with early breast cancer: a cost-effectiveness analysis of 1000 strategies for the provision of adjuvant! Online, oncotype dx and chemotherapy.: International Society For Pharmacoeconomics and Outcomes Research (ISPOR) 16th Annual international Meeting. Baltimore, MD, 2011. Paulden M, Franek J, Pham B, Krahn M. Gene expression profiling for guiding adjuvant chemotherapy decisions in women with early breast cancer: a cost-effectiveness analysis of 1000 strategies for the provision of adjuvant! Online, oncotype dx and chemotherapy.: International Society For Pharmacoeconomics and Outcomes Research (ISPOR) 16th Annual international Meeting. Baltimore, MD, 2011.
73.
Zurück zum Zitat Kondo M, Hoshi SL, Yamanaka T, Ishiguro H, Toi M. Economic evaluation of the 21-gene signature (oncotype dx) in lymph node-negative/positive, hormone receptor-positive early-stage breast cancer based on Japanese validation study (jbcrg-tr03). Breast Cancer Res Treat. 2011;127:739–49.CrossRefPubMed Kondo M, Hoshi SL, Yamanaka T, Ishiguro H, Toi M. Economic evaluation of the 21-gene signature (oncotype dx) in lymph node-negative/positive, hormone receptor-positive early-stage breast cancer based on Japanese validation study (jbcrg-tr03). Breast Cancer Res Treat. 2011;127:739–49.CrossRefPubMed
74.
Zurück zum Zitat Lamond NW, Skedgel C, Rayson D, Lethbridge L, Younis T. Cost-utility of the 21-gene recurrence score assay in node-negative and node-positive breast cancer. Breast Cancer Res Treat 2012. Lamond NW, Skedgel C, Rayson D, Lethbridge L, Younis T. Cost-utility of the 21-gene recurrence score assay in node-negative and node-positive breast cancer. Breast Cancer Res Treat 2012.
75.
Zurück zum Zitat Madaras B, Rózsa P, Gerencsér Z, Radovics T, Láng I, Nagy Z, et al. Evaluation of the cost-effectiveness of Oncotype-DX® multigene assay in Hungary: 12th St Gallen International Breast Cancer Conference. St Gallen, Switzerland, 2011. Madaras B, Rózsa P, Gerencsér Z, Radovics T, Láng I, Nagy Z, et al. Evaluation of the cost-effectiveness of Oncotype-DX® multigene assay in Hungary: 12th St Gallen International Breast Cancer Conference. St Gallen, Switzerland, 2011.
76.
Zurück zum Zitat O’Leary B, Yoshizawa C, Foteff C, Chao C. Cost-effectiveness of the Oncotype DX assay in Australia: an exploratory analysis.: International Society For Pharmacoeconomics and Outcomes Research (ISPOR) 4th Asia-Pacific Conference. Phuket, Thailand, 2010. O’Leary B, Yoshizawa C, Foteff C, Chao C. Cost-effectiveness of the Oncotype DX assay in Australia: an exploratory analysis.: International Society For Pharmacoeconomics and Outcomes Research (ISPOR) 4th Asia-Pacific Conference. Phuket, Thailand, 2010.
77.
Zurück zum Zitat de Lima Lopez G, Chien R, Hornberger J. Cost–benefit analysis of the 21-gene recurrence score® for early stage breast cancer in Singapore.: 12th St Gallen International Breast Cancer Conference St Gallen, Switzerland, 2011. de Lima Lopez G, Chien R, Hornberger J. Cost–benefit analysis of the 21-gene recurrence score® for early stage breast cancer in Singapore.: 12th St Gallen International Breast Cancer Conference St Gallen, Switzerland, 2011.
78.
Zurück zum Zitat Blohmer JU, Rezai M, Kummel S, Kuhn T, Warm M, Friedrichs K, et al. Using the 21-gene assay to guide adjuvant chemotherapy decision-making in early-stage breast cancer: a cost-effectiveness evaluation in the German setting. J Med Econ. 2013;16:30–40.CrossRefPubMed Blohmer JU, Rezai M, Kummel S, Kuhn T, Warm M, Friedrichs K, et al. Using the 21-gene assay to guide adjuvant chemotherapy decision-making in early-stage breast cancer: a cost-effectiveness evaluation in the German setting. J Med Econ. 2013;16:30–40.CrossRefPubMed
79.
Zurück zum Zitat Hornberger J, Cosler LE, Lyman GH. Economic analysis of targeting chemotherapy using a 21-gene rt-pcr assay in lymph-node-negative, estrogen-receptor-positive, early-stage breast cancer. Am J Manag Care. 2005;11:313–24.PubMed Hornberger J, Cosler LE, Lyman GH. Economic analysis of targeting chemotherapy using a 21-gene rt-pcr assay in lymph-node-negative, estrogen-receptor-positive, early-stage breast cancer. Am J Manag Care. 2005;11:313–24.PubMed
80.
Zurück zum Zitat Lyman GH, Cosler LE, Kuderer NM, Hornberger J. Impact of a 21-gene rt-pcr assay on treatment decisions in early-stage breast cancer: an economic analysis based on prognostic and predictive validation studies. Cancer. 2007;109:1011–8.CrossRefPubMed Lyman GH, Cosler LE, Kuderer NM, Hornberger J. Impact of a 21-gene rt-pcr assay on treatment decisions in early-stage breast cancer: an economic analysis based on prognostic and predictive validation studies. Cancer. 2007;109:1011–8.CrossRefPubMed
81.
Zurück zum Zitat Vataire AL, Laas E, Aballea S, Gligorov J, Rouzier R, Chereau E. Cost-effectiveness of a chemotherapy predictive test. Bull Cancer. 2012;99:907–14.PubMed Vataire AL, Laas E, Aballea S, Gligorov J, Rouzier R, Chereau E. Cost-effectiveness of a chemotherapy predictive test. Bull Cancer. 2012;99:907–14.PubMed
82.
Zurück zum Zitat Chen E, Tong KB, Malin JL. Cost-effectiveness of 70-gene mammaprint signature in node-negative breast cancer. Am J Manag Care. 2010;16:e333–42.PubMed Chen E, Tong KB, Malin JL. Cost-effectiveness of 70-gene mammaprint signature in node-negative breast cancer. Am J Manag Care. 2010;16:e333–42.PubMed
83.
Zurück zum Zitat Retel VP, Joore MA, van Harten WH. Head-to-head comparison of the 70-gene signature versus the 21-gene assay: cost-effectiveness and the effect of compliance. Breast Cancer Res Treat. 2012;131:627–36.CrossRefPubMed Retel VP, Joore MA, van Harten WH. Head-to-head comparison of the 70-gene signature versus the 21-gene assay: cost-effectiveness and the effect of compliance. Breast Cancer Res Treat. 2012;131:627–36.CrossRefPubMed
84.
Zurück zum Zitat Yang M, Rajan S, Issa AM. Cost effectiveness of gene expression profiling for early stage breast cancer: a decision-analytic model. Cancer. 2012;118:5163–70.CrossRefPubMed Yang M, Rajan S, Issa AM. Cost effectiveness of gene expression profiling for early stage breast cancer: a decision-analytic model. Cancer. 2012;118:5163–70.CrossRefPubMed
Metadaten
Titel
Diagnostic tests based on gene expression profile in breast cancer: from background to clinical use
verfasst von
Laura Zanotti
Alberto Bottini
Camillo Rossi
Daniele Generali
Maria Rosa Cappelletti
Publikationsdatum
01.09.2014
Verlag
Springer Netherlands
Erschienen in
Tumor Biology / Ausgabe 9/2014
Print ISSN: 1010-4283
Elektronische ISSN: 1423-0380
DOI
https://doi.org/10.1007/s13277-014-2366-2

Weitere Artikel der Ausgabe 9/2014

Tumor Biology 9/2014 Zur Ausgabe

Update Onkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.