Seminars in Oncology
Volume 34 , Pages S4-S9 , April 2007

A Pathologist’s Perspective on Emerging Genomic Tests for Breast Cancer

  • W. Fraser Symmans

      Affiliations

    • Dr Symmans owns stock in Nuvera Biosciences, Inc, Amgen Inc, Cell Therapeutics, and Isis Pharmaceuticals.
    • Corresponding Author InformationAddress reprint requests to W. Fraser Symmans, MD, Department of Pathology, Unit 85, The University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030

References 

  1. Eifel P, Axelson JA, Costa J, et al. National Institutes of Health Consensus Development Conference Statement: Adjuvant therapy for breast cancer, November 1-3, 2000. J Natl Cancer Inst. 2001;93:979–989
  2. Goldhirsch A, Wood WC, Gelber RD, et al. Meeting highlights: Updated international expert consensus on the primary therapy of early breast cancer. J Clin Oncol. 2003;21:3357–3365
  3. Kiang DT, Frenning DH, Goldman AI, et al. Estrogen receptors and responses to chemotherapy and hormonal therapy in advanced breast cancer. N Engl J Med. 1978;299:1330–1334
  4. Klijanienko J, Laine-Bidron C, Vielh P, et al. Immunoenzymatic (EIA) assays of estrogen and progesterone receptors in fine-needle and surgical samples in breast cancer patients. Am J Clin Pathol. 1995;104:289–293
  5. Pertschuk LP, Eisenberg KB, Carter AC, et al. Immunohistologic localization of estrogen receptors in breast cancer with monoclonal antibodies (Correlation with biochemistry and clinical endocrine response). Cancer. 1985;55:1513–1518
  6. De Rosa CM, Ozzello L, Greene GL, et al. Immunostaining of estrogen receptor in paraffin sections of breast carcinomas using monoclonal antibody D75P3 gamma: Effects of fixation. Am J Surg Pathol. 1987;11:943–950
  7. Goulding H, Pinder S, Cannon P, et al. A new immunohistochemical antibody for the assessment of estrogen receptor status on routine formalin-fixed tissue samples. Hum Pathol. 1995;26:291–294
  8. Alberts SR, Ingle JN, Roche PR, et al. Comparison of estrogen receptor determinations by a biochemical ligand-binding assay and immunohistochemical staining with monoclonal antibody ER1D5 in females with lymph node positive breast carcinoma entered on two prospective clinical trials. Cancer. 1996;78:764–772
  9. Pertschuk LP, Feldman JG, Kim YD, et al. Estrogen receptor immunocytochemistry in paraffin embedded tissues with ER1D5 predicts breast cancer endocrine response more accurately than H222Sp gamma in frozen sections or cytosol-based ligand-binding assays. Cancer. 1996;77:2514–2519
  10. Harvey JM, Clark GM, Osborne CK, et al. Estrogen receptor status by immunohistochemistry is superior to the ligand-binding assay for predicting response to adjuvant endocrine therapy in breast cancer. J Clin Oncol. 1999;17:1474–1481
  11. US Food and Drug Administration. Medical devices; classification/reclassification of immunohistochemistry reagents and kits–FDA (Final rule). Federal Register. 1998;63:30132–30142
  12. Taylor CW. FDA issues final rule for classification and reclassification of immunochemistry reagents and kits. Am J Clin Pathol. 1999;111:443–444
  13. Rhodes A, Jasani B, Barnes DM, et al. Reliability of immunohistochemical demonstration of oestrogen receptors in routine practice: Interlaboratory variance in the sensitivity of detection and evaluation of scoring systems. J Clin Pathol. 2000;53:125–130
  14. Regitnig P, Reiner A, Dinges HP, et al. Quality assurance for detection of estrogen and progesterone receptors by immunohistochemistry in Austrian pathology laboratories. Virchows Arch. 2002;441:328–334
  15. Gancberg D, Jarvinen T, di Leo A, et al. Evaluation of HER-2/NEU protein expression in breast cancer by immunohistochemistry: An interlaboratory study assessing the reproducibility of HER-2/NEU testing. Breast Cancer Res Treat. 2002;74:113–120
  16. Mass RD, Press MF, Anderson S, et al. Evaluation of clinical outcomes according to HER2 detection by fluorescence in situ hybridization in women with metastatic breast cancer treated with trastuzumab. Clin Breast Cancer. 2005;6:240–246
  17. Perez EA, Suman VJ, Davidson NE, et al. HER2 testing by local, central, and reference laboratories in specimens from the North Central Cancer Treatment Group N9831 intergroup adjuvant trial. J Clin Oncol. 2006;24:3032–3038
  18. Press MF, Hung G, Godolphin W, et al. Sensitivity of HER-2/neu antibodies in archival tissue samples: Potential source of error in immunohistochemical studies of oncogene expression. Cancer Res. 1994;54:2771–2777
  19. Schnitt SJ, Jacobs TW. Current status of HER2 testing: caught between a rock and a hard place. Am J Clin Pathol. 2001;116:806–810
  20. Hayes DF, Thor AD. c-erbB-2 in breast cancer: development of a clinically useful marker. Semin Oncol. 2002;29:231–245
  21. Paik S, Bryant J, Tan-Chiu E, et al. Real-world performance of HER2 testing–National Surgical Adjuvant Breast and Bowel Project experience. J Natl Cancer Inst. 2002;94:852–854
  22. Roche PC, Suman VJ, Jenkins RB, et al. Concordance between local and central laboratory HER2 testing in the Breast Intergroup trial N9831. J Natl Cancer Inst. 2002;94:855–857
  23. Simon R. Development and validation of therapeutically relevant multi-gene biomarker classifiers. J Natl Cancer Inst. 2005;97:866–867
  24. Ransohoff DF. Rules of evidence for cancer molecular-marker discovery and validation. Nat Rev Cancer. 2004;4:309–314
  25. Ransohoff DF. Opinion: Bias as a threat to the validity of cancer molecular-marker research. Nat Rev Cancer. 2005;5:142–149
  26. Perou CM, Jeffrey SS, van de Rijn M, et al. Distinctive gene expression patterns in human mammary epithelial cells and breast cancers. Proc Natl Acad Sci U S A. 1999;96:9212–9217
  27. Perou CM, Sorlie T, Elsen MB, et al. Molecular portraits of human breast tumours. Nature. 2000;406:747–752
  28. Paik S, Shak S, Tang G, et al. A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. N Engl J Med. 2004;351:2817–2826
  29. Habel LA, Shak S, Jacobs MK, 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;[Epub]. Available at http://breast-cancer-research.com/content/8/3/R25.
  30. Esteva FJ, Sahin AA, Cristofanilli M, et al. Prognostic role of a multigene reverse transcriptase-PCR assay in patients with node-negative breast cancer not receiving adjuvant systemic therapy. Clin Cancer Res. 2005;11:3315–3319
  31. Paik S, Shak S, Tang G, et al. Expression of the 21 genes in the Recurrence Score assay and tamoxifen clinical benefit in the NSABP study B-14 of node negative, estrogen receptor positive breast cancer. [abstr 510] Proc Am Soc Clin Oncol. 2005;23:6S
  32. van ’t Veer LJ, Dai H, van de Vijver MJ, et al. Gene expression profiling predicts clinical outcome of breast cancer. Nature. 2002;415:530–536
  33. van de Vijver MJ, He YD, van’t Veer LJ, et al. A gene-expression signature as a predictor of survival in breast cancer. N Engl J Med. 2002;347:1999–2009
  34. Wang Y, Klijn JG, Zhang Y, et al. Gene-expression profiles to predict distant metastasis of lymph-node-negative primary breast cancer. Lancet. 2005;365:671–679
  35. Foekens JA, Atkins D, Zhang Y, et al. Multicenter validation of a gene expression-based prognostic signature in lymph node-negative primary breast cancer. J Clin Oncol. 2006;24:1665–1671
  36. Sotiriou C, Wirapati P, Loi S, et al. Gene expression profiling in breast cancer: Understanding the molecular basis of histologic grade to improve prognosis. J Natl Cancer Inst. 2006;98:262–272
  37. Sotiriou C, Wiripati P, Loi S, et al. Better characterization of estrogen receptor (ER) positive luminal subtypes using genomic grade. [abstr] Br Cancer Res Treat. 2005;94:S19
  38. Fan C, Oh DS, Wessels L, et al. Concordance among gene-expression-based predictors for breast cancer. N Engl J Med. 2006;355:560–569
  39. Symmans WF, Ayers M, Clark EA, et al. Total RNA yield and microarray gene expression profiles from fine needle aspiration and core needle biopsy samples of breast cancer. Cancer. 2003;97:2960–2971
  40. Ayers M, Symmans WF, Stec J, et al. Gene expression profiles predict complete pathologic response to neoadjuvant paclitaxel and fluorouracil, doxorubicin, and cyclophosphamide chemotherapy in breast cancer. J Clin Oncol. 2004;22:2284–2293
  41. Hess KR, Anderson K, Symmans WF, et al. Pharmacogenomic predictor of sensitivity to preoperative chemotherapy with paclitaxel and fluorouracil, doxorubicin, and cyclophosphamide in breast cancer. J Clin Oncol. 2006;24:4236–4244
  42. Ma XJ, Wang Z, Ryan PD, et al. A two-gene expression ratio predicts clinical outcome in breast cancer patients treated with tamoxifen. Cancer Cell. 2004;5:607–616
  43. Goetz MP, Suman VJ, Ingle JN, et al. A two-gene expression ratio of homeobox 13 and interleukin-17B receptor for prediction of recurrence and survival in women receiving adjuvant tamoxifen. Clin Cancer Res. 2006;12:2080–2087
  44. Symmans WF. Genomic testing for sensitivity of breast cancer to hormonal therapy. Clin Cancer Res. 2006;12:1954–1955
  45. Shi L, Reid LH, Jones WD, et al. The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements. Nat Biotechnol. 2006;24:1151–1161
  46. Patterson TA, Lobenhofer EK, Fulmer-Smentek SB, et al. Performance comparison of one-color and two-color platforms within the Microarray Quality Control (MAQC) project. Nat Biotechnol. 2006;24:1140–1150
  47. Tong W, Lucas AB, Shippy R, et al. Evaluation of external RNA controls for the assessment of microarray performance. Nat Biotechnol. 2006;24:1132–1139
  48. Shippy R, Fulmer-Smentek S, Jensen RV, et al. Using RNA sample titrations to assess microarray platform performance and normalization techniques. Nat Biotechnol. 2006;24:1123–1131
  49. Canales RD, Luo Y, Willey JC, et al. Evaluation of DNA microarray results with quantitative gene expression platforms. Nat Biotechnol. 2006;24:1115–1122
  50. Ji H, Davis RW. Data quality in genomics and microarrays. Nat Biotechnol. 2006;24:1112–1113
  51. Frueh FW. Impact of microarray data quality on genomic data submissions to the FDA. Nat Biotechnol. 2006;24:1105–1107
  52. Casciano DA, Woodcock J. Empowering microarrays in the regulatory setting. Nat Biotechnol. 2006;24:1103
  53. Hudson KL, Murphy JA, Kaufman DJ, et al. Oversight of US genetic testing laboratories. Nat Biotechnol. 2006;24:1083–1090

PII: S0093-7754(07)00070-X

doi: 10.1053/j.seminoncol.2007.03.016

Seminars in Oncology
Volume 34 , Pages S4-S9 , April 2007