Gene expression profiling to guide selection of adjuvant therapy in breast cancer

Breast cancer is in Sweden the most common form of cancer in women and one of the most frequent causes of death in middle-aged women. Molecular genetic tests studying the expression of genes associated with example given metastasizing (spreading of the cancer to other body parts) could help in refining the risk assessment of tumours before decision of adjuvant therapy after surgery. Histopathologic examination is in Sweden routine to guide selection of adjuvant therapy and gene expression profiling is only performed on a research basis.


What is the current state of scientific knowledge regarding gene expression profiling to guide selection of adjuvant therapy in breast cancer?

Identified literature

  1. Wang SY, Dang W, Richman I, Mougalian SS, Evans SB, Gross CP. Cost-Effectiveness Analyses of the 21-Gene Assay in Breast Cancer: Systematic Review and Critical Appraisal. J Clin Oncol 2018:Jco2017765941.
  2. Blok EJ, Bastiaannet E, van den Hout WB, Liefers GJ, Smit V, Kroep JR, et al. Systematic review of the clinical and economic value of gene expression profiles for invasive early breast cancer available in Europe. Cancer Treat Rev 2018;62:74-90.
  3. Scope A, Essat M, Pandor A, Rafia R, Ward SE, Wyld L, et al. Gene expression profiling and expanded immunohistochemistry tests to guide selection of chemotherapy regimens in breast cancer management: a systematic review. Int J Technol Assess Health Care 2017;33:32-45.
  4. Hyams DM, Schuur E, Angel Aristizabal J, Bargallo Rocha JE, Cabello C, Elizalde R, et al. Selecting postoperative adjuvant systemic therapy for early stage breast cancer: A critical assessment of commercially available gene expression assays. Journal of Surgical Oncology 2017;115:647-662.
  5. Chang MC, Souter LH, Kamel-Reid S, Rutherford M, Bedard P, Trudeau M, et al. Clinical utility of multigene profiling assays in early-stage breast cancer. Curr Oncol 2017;24:e403-e422.
  6. Gene expression tests for women with early stage breast cancer: a review of clinical utility and cost-effectiveness. CADTH rapid response report: summary with critical appraisal. Ottawa: CADTH 2017 Oct. RC0934.
  7. Added value of using the gene expression signature test MammaPrint® for adjuvant chemotherapy decision-making in early breast cancer. European Network for Health Technology Assessment 2018. EUnetHTA Joint Action 3 WP4. Project ID: OTCA04.
  8. Nerich V, Saing S, Gamper EM, Kemmler G, Daval F, Pivot X, et al. Cost-utility analyses of drug therapies in breast cancer: a systematic review. Breast Cancer Res Treat 2016;159:407-24.
  9. Marrone M, Stewart A, Dotson WD. Clinical utility of gene-expression profiling in women with early breast cancer: an overview of systematic reviews. Genet Med 2015;17:519-32.
  10. Issa AM, Chaudhari VS, Marchant GE. The value of multigene predictors of clinical outcome in breast cancer: an analysis of the evidence. Expert Rev Mol Diagn 2015;15:277-86.
  11. Augustovski F, Soto N, Caporale J, Gonzalez L, Gibbons L, Ciapponi A. Decision-making impact on adjuvant chemotherapy allocation in early node-negative breast cancer with a 21-gene assay: systematic review and meta-analysis. Breast Cancer Res Treat 2015;152:611-25.
  12. Chung C, Christianson M. Predictive and prognostic biomarkers with therapeutic targets in breast, colorectal, and non-small cell lung cancers: a systemic review of current development, evidence, and recommendation. J Oncol Pharm Pract 2014;20:11-28.
  13. Zhao L, Zhu S, Gao Y, Wang Y. Two-gene expression ratio as predictor for breast cancer treated with tamoxifen: evidence from meta-analysis. Tumor Biology 2013:1-5.
  14. Rouzier R, Pronzato P, Chereau E, Carlson J, Hunt B, Valentine WJ. Multigene assays and molecular markers in breast cancer: systematic review of health economic analyses. Breast Cancer Res Treat 2013;139:621-37.
  15. 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.
  16. Broder MS, Sing AP. A systematic review of the impact of molecular diagnostics on treatment decisions for patients with breast cancer. Journal of OncoPathology 2013;1:131-143.
  17. Azim HA, Jr., Michiels S, Zagouri F, Delaloge S, Filipits M, Namer M, et al. Utility of prognostic genomic tests in breast cancer practice: The IMPAKT 2012 Working Group Consensus Statement. Ann Oncol 2013;24:647-54.
  18. Hornberger J, Alvarado MD, Rebecca C, Gutierrez HR, Yu TM, Gradishar WJ. Clinical validity/utility, change in practice patterns, and economic implications of risk stratifiers to predict outcomes for early-stage breast cancer: a systematic review. J Natl Cancer Inst 2012;104:1068-79.
  19. Guiu S, Michiels S, André F, Cortes J, Denkert C, Di Leo A, et al. Molecular subclasses of breast cancer: How do we define them? The IMPAKT 2012 working group statement. Annals of Oncology 2012;23:2997-3006.
  20. Kuderer NM, Lyman GH. Gene expression profile assays as predictors of distant recurrence-free survival in early-stage breast cancer. Cancer Invest 2009;27:885-90.
  21. Marchionni L, Wilson RF, Wolff AC, Marinopoulos S, Parmigiani G, Bass EB, et al. Systematic review: gene expression profiling assays in early-stage breast cancer. Ann Intern Med 2008;148:358-69.
  22. San ML, Vlayen J, Laet C. Gene expression profiling and immunohistochemistry tests for personalised management of adjuvant chemotherapy decisions in early breast cancer – a Rapid Assessment. Health Technology Assessment (HTA) Brussels: Belgian Health Care Knowledge Centre (KCE) 2015.
  23. Meleth S, Reeder-Hayes K, Ashok M, Clark R, Funkhouser W, Wines R, et al. AHRQ Technology Assessments. In: Technology Assessment of Molecular Pathology Testing for the Estimation of Prognosis for Common Cancers. Rockville (MD): Agency for Healthcare Research and Quality (US); 2014.
  24. Cadth. Oncotype DX in women and men with ER-positive HER2-negative early stage breast cancer Who are lymph node-positive: a review of clinical effectiveness and guidelines (Structured abstract). Health Technology Assessment Database 2014.
  25. Ward S, Scope A, Rafia R, Pandor A, Harnan S, Evans P, et al. Gene expression profiling and expanded immunohistochemistry tests to guide the use of adjuvant chemotherapy in breast cancer management: a systematic review and cost-effectiveness analysis. Health Technol Assess 2013;17:1-302.
  26. Smartt P. A comparison of gene expression profiling tests for breast cancer (Structured abstract). Health Technology Assessment Database 2010.
  27. 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.
  28. Marchionni L, Wilson RF, Marinopoulos SS, Wolff AC, Parmigiani G, Bass EB, et al. Impact of gene expression profiling tests on breast cancer outcomes (Provisional abstract). Database of Abstracts of Reviews of Effects 2008:218.
  29. Oncotype DX prognostic and predictive test for early breast cancer (Structured abstract). Health Technology Assessment Database 2008.

Literature search

Literature search gene expression.pdf

SBU Enquiry Service consists of systematic literature searches to highlight studies that can address questions received by the SBU Enquiry Service from Swedish healthcare or social service providers. Relevant references are compiled by an SBU staff member, in consultation with an external expert when needed. The quality of the studies identified is not systematically reviewed.

Published: 6/21/2018
Contact SBU:
Page published