Top

Published in:

01-06-2012 | NON-THEMATIC REVIEW

The present and future of gene profiling in breast cancer

Authors: E. Espinosa, A. Gámez-Pozo, I. Sánchez-Navarro, A. Pinto, C. A. Castañeda, E. Ciruelos, J. Feliu, J. A. Fresno Vara

Published in: Cancer and Metastasis Reviews | Issue 1-2/2012

Abstract

Gene signatures can provide prognostic and predictive information to help in the treatment of early-stage breast cancer. Although many of these signatures have been described, only a few have been properly validated. MammaPrint and OncoType offer prognostic information and identify low-risk patients who do not benefit from adjuvant chemotherapy. With regard to prediction of response, molecular subtypes of breast cancer differ in their sensitivity to chemotherapy, although further studies are needed in this field. Cost, small sample size, and the need to use central laboratories are common limitations to the widespread use of these tools.

Olivotto, I. A., Bajdik, C. D., Ravdin, P. M., Speers, C. H., Coldman, A. J., Norris, B. D., et al. (2005). Population-based validation of the prognostic model ADJUVANT! for early breast cancer. Journal of Clinical Oncology, 23, 2716–2725.PubMedCrossRef

Elston, C. W., & Ellis, I. O. (1991). Pathological prognostic factors in breast cancer. I. The value of histological grade in breast cancer: experience from a large study with long-term follow-up. Histopathology, 19, 403–410.PubMedCrossRef

Robbins, P., Pinder, S., de Klerk, N., Dawkins, H., Harvey, J., Sterrett, G., et al. (1995). Histological grading of breast carcinomas: a study of interobserver agreement. Human Pathology, 26, 873–879.PubMedCrossRef

Martin, M., Mahillo, E., Llombart-Cussac, A., Lluch, A., Munarriz, B., Pastor, M., et al. (2006). The “El Alamo” project (1990–1997): two consecutive hospital-based studies of breast cancer outcomes in Spain. Clinical and Translational Oncology, 8, 508–518.PubMedCrossRef

Ross, J. S., Hatzis, C., Symmans, W. F., Pusztai, L., & Hortobagyi, G. N. (2008). Commercialized multigene predictors of clinical outcome for breast cancer. The Oncologist, 13, 477–493.PubMedCrossRef

Sanchez-Navarro, I., Gamez-Pozo, A., Pinto, A., Hardisson, D., Madero, R., Lopez, R., et al. (2010). An 8-gene qRT-PCR-based gene expression score that has prognostic value in early breast cancer. BMC Cancer, 10, 336.PubMedCrossRef

Ma, X. J., Salunga, R., Dahiya, S., Wang, W., Carney, E., Durbecq, V., et al. (2008). A five-gene molecular grade index and HOXB13:IL17BR are complementary prognostic factors in early stage breast cancer. Clinical Cancer Research, 14, 2601–2608.PubMedCrossRef

Jankowitz, R., Chivukula, M., Ma, X., et al. (2010). Predictive value of the Theros Breast Cancer Index for distant recurrence and overall survival in comparison to Adjuvant! Online and clinicopathologic characteristics in women with lymph node-negative, ER-positive breast cancer. In: Proceedings of the American Society for Clinical Oncology, abs 10582.

van de Vijver, M. J., He, Y. D., van't Veer, L. J., Dai, H., Hart, A. A., Voskuil, D. W., et al. (2002). A gene-expression signature as a predictor of survival in breast cancer. The New England Journal of Medicine, 347, 1999–2009.PubMedCrossRef

10.

Espinosa, E., Sanchez-Navarro, I., Gamez-Pozo, A., Marin, A. P., Hardisson, D., Madero, R., et al. (2009). Comparison of prognostic gene profiles using qRT-PCR in paraffin samples: a retrospective study in patients with early breast cancer. PLoS One, 4, e5911.PubMedCrossRef

11.

Espinosa, E., Vara, J. A., Redondo, A., Sanchez, J. J., Hardisson, D., Zamora, P., et al. (2005). Breast cancer prognosis determined by gene expression profiling: a quantitative reverse transcriptase polymerase chain reaction study. Journal of Clinical Oncology, 23, 7278–7285.PubMedCrossRef

12.

Paik, S., Shak, S., Tang, G., Kim, C., Baker, J., Cronin, M., et al. (2004). A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. The New England Journal of Medicine, 351, 2817–2826.PubMedCrossRef

13.

Albain, K. S., Barlow, W. E., Shak, S., Hortobagyi, G. N., Livingston, R. B., Yeh, I. T., et al. (2010). 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. The Lancet Oncology, 11, 55–65.PubMedCrossRef

14.

Mook, S., Schmidt, M. K., Viale, G., Pruneri, G., Eekhout, I., Floore, A., et al. (2009). 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 Research and Treatment, 116, 295–302.PubMedCrossRef

15.

Teschendorff, A. E., & Caldas, C. (2008). A robust classifier of high predictive value to identify good prognosis patients in ER-negative breast cancer. Breast Cancer Research, 10, R73.PubMedCrossRef

16.

Yau, C., Esserman, L., Moore, D. H., Waldman, F., Sninsky, J., & Benz, C. C. (2010). A multigene predictor of metastatic outcome in early stage hormone receptor-negative and triple-negative breast cancer. Breast Cancer Research, 12, R85.PubMedCrossRef

17.

Ein-Dor, L., Zuk, O., & Domany, E. (2006). Thousands of samples are needed to generate a robust gene list for predicting outcome in cancer. Proceedings of the National Academy of Sciences of the United States of America, 103, 5923–5928.PubMedCrossRef

18.

Simon, R. (2005). Roadmap for developing and validating therapeutically relevant genomic classifiers. Journal of Clinical Oncology, 23, 7332–7341.PubMedCrossRef

19.

Simon, R. M., Paik, S., & Hayes, D. F. (2009). Use of archived specimens in evaluation of prognostic and predictive biomarkers. Journal of the National Cancer Institute, 101, 1446–1452.PubMedCrossRef

20.

Bogaerts, J., Cardoso, F., Buyse, M., Braga, S., Loi, S., Harrison, J. A., et al. (2006). Gene signature evaluation as a prognostic tool: challenges in the design of the MINDACT trial. Nature Clinical Practice Oncology, 3, 540–551.PubMedCrossRef

21.

Sparano, J. A. (2006). TAILORx: trial assigning individualized options for treatment (Rx). Clinical Breast Cancer, 7, 347–350.PubMedCrossRef

22.

Peppercorn, J., Perou, C. M., & Carey, L. A. (2008). Molecular subtypes in breast cancer evaluation and management: divide and conquer. Cancer Investigation, 26, 1–10.PubMedCrossRef

23.

Perou, C. M., & Borresen, A. L. (2011). Systems biology and genomics of breast cancer. Cold Spring Harbor Perspectives in Biology, 3(2), pii:a003293.CrossRef

24.

Sorlie, T., Tibshirani, R., Parker, J., Hastie, T., Marron, J. S., Nobel, A., et al. (2003). Repeated observation of breast tumor subtypes in independent gene expression data sets. Proceedings of the National Academy of Sciences of the United States of America, 100, 8418–8423.PubMedCrossRef

25.

Herschkowitz, J. I., Simin, K., Weigman, V. J., Mikaelian, I., Usary, J., Hu, Z., et al. (2007). Identification of conserved gene expression features between murine mammary carcinoma models and human breast tumors. Genome Biology, 8, R76.PubMedCrossRef

26.

Hu, Z., Fan, C., Oh, D. S., Marron, J. S., He, X., Qaqish, B. F., et al. (2006). The molecular portraits of breast tumors are conserved across microarray platforms. BMC Genomics, 7, 96.PubMedCrossRef

27.

Parker, J. S., Mullins, M., Cheang, M. C., Leung, S., Voduc, D., Vickery, T., et al. (2009). Supervised risk predictor of breast cancer based on intrinsic subtypes. Journal of Clinical Oncology, 27, 1160–1167.PubMedCrossRef

28.

Esserman, L. J., Perou, C., Cheang, M., DeMichele, A., Carey, L., van't Veer, L., et al. (2009). Breast cancer molecular profiles and tumor response of neoadjuvant doxorubicin and paclitaxel: the I-SPY TRIAL. In: Proceedings of the American Society for Clinical Oncology, LBA 515.

29.

Parker, J. S., Prat, A., Cheang, M., Lenburg, M. E., Paik, S., & Perou, C. (2009). Breast cancer molecular subtypes predict response to anthracycline/taxane based chemotherapy. In: San Antonio Breast Cancer Symposium, abs 2019.

30.

Martin, M., Romero, A., Lopez Garcia-Asenjo, L., Cheang, M., Oliva, B., Garcia Saenz, J., et al. (2010). Molecular and genomic predictors of response to single-agent doxorubicin versus single-agent docetaxel in primary breast cancer. In: Proceedings of the American Society for Clinical Oncology, abs 502; Chicago.

31.

Liedtke, C., Mazouni, C., Hess, K. R., Andre, F., Tordai, A., Mejia, J. A., et al. (2008). Response to neoadjuvant therapy and long-term survival in patients with triple-negative breast cancer. Journal of Clinical Oncology, 26, 1275–1281.PubMedCrossRef

32.

Annunziata, C. M., & O'Shaughnessy, J. (2010). Poly (adp-ribose) polymerase as a novel therapeutic target in cancer. Clinical Cancer Research, 16, 4517–4526.PubMedCrossRef

33.

Sotiriou, C., Wirapati, P., Loi, S., Harris, A., Fox, S., Smeds, J., et al. (2006). Gene expression profiling in breast cancer: understanding the molecular basis of histologic grade to improve prognosis. Journal of the National Cancer Institute, 98, 262–272.PubMedCrossRef

34.

Paik, S., Tang, G., Shak, S., Kim, C., Baker, J., Kim, W., et al. (2006). Gene expression and benefit of chemotherapy in women with node-negative, estrogen receptor-positive breast cancer. Journal of Clinical Oncology, 24, 3726–3734.PubMedCrossRef

35.

Fan, C., Oh, D. S., Wessels, L., Weigelt, B., Nuyten, D. S., Nobel, A. B., et al. (2006). Concordance among gene-expression-based predictors for breast cancer. The New England Journal of Medicine, 355, 560–569.PubMedCrossRef

36.

Straver, M. E., Glas, A. M., Hannemann, J., Wesseling, J., van de Vijver, M. J., Rutgers, E. J., et al. (2010). The 70-gene signature as a response predictor for neoadjuvant chemotherapy in breast cancer. Breast Cancer Research and Treatment, 119, 551–558.PubMedCrossRef

37.

Ayers, M., Symmans, W. F., Stec, J., Damokosh, A. I., Clark, E., Hess, K., et al. (2004). Gene expression profiles predict complete pathologic response to neoadjuvant paclitaxel and fluorouracil, doxorubicin, and cyclophosphamide chemotherapy in breast cancer. Journal of Clinical Oncology, 22, 2284–2293.PubMedCrossRef

38.

Iwao-Koizumi, K., Matoba, R., Ueno, N., Kim, S. J., Ando, A., Miyoshi, Y., et al. (2005). Prediction of docetaxel response in human breast cancer by gene expression profiling. Journal of Clinical Oncology, 23, 422–431.PubMedCrossRef

39.

Rouzier, R., Pusztai, L., Delaloge, S., Gonzalez-Angulo, A. M., Andre, F., Hess, K. R., et al. (2005). Nomograms to predict pathologic complete response and metastasis-free survival after preoperative chemotherapy for breast cancer. Journal of Clinical Oncology, 23, 8331–8339.PubMedCrossRef

40.

Lyman, G. H., Cosler, L. E., Kuderer, N. M., & Hornberger, J. (2007). 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, 109, 1011–1018.PubMedCrossRef

41.

Roepman, P., Horlings, H. M., Krijgsman, O., Kok, M., Bueno-de-Mesquita, J. M., Bender, R., et al. (2009). Microarray-based determination of estrogen receptor, progesterone receptor, and HER2 receptor status in breast cancer. Clinical Cancer Research, 15, 7003–7011.PubMedCrossRef

42.

Baehner, F. L., Achacoso, N., Maddala, T., Shak, S., Quesenberry, C. P., Jr., Goldstein, L. C., et al. (2010). Human epidermal growth factor receptor 2 assessment in a case–control study: comparison of fluorescence in situ hybridization and quantitative reverse transcription polymerase chain reaction performed by central laboratories. Journal of Clinical Oncology, 28, 4300–4306.PubMedCrossRef

43.

Iverson, A. A., Gillett, C., Cane, P., Santini, C. D., Vess, T. M., Kam-Morgan, L., et al. (2009). A single-tube quantitative assay for mRNA levels of hormonal and growth factor receptors in breast cancer specimens. Journal of Molecular Diagnostics, 11, 117–130.PubMedCrossRef

44.

Pentheroudakis, G., Kalogeras, K. T., Wirtz, R. M., Grimani, I., Zografos, G., Gogas, H., et al. (2009). Gene expression of estrogen receptor, progesterone receptor and microtubule-associated protein Tau in high-risk early breast cancer: a quest for molecular predictors of treatment benefit in the context of a Hellenic Cooperative Oncology Group trial. Breast Cancer Research and Treatment, 116, 131–143.PubMedCrossRef

45.

Minn, A. J., Gupta, G. P., Siegel, P. M., Bos, P. D., Shu, W., Giri, D. D., et al. (2005). Genes that mediate breast cancer metastasis to lung. Nature, 436, 518–524.PubMedCrossRef

46.

Bos, P. D., Zhang, X. H., Nadal, C., Shu, W., Gomis, R. R., Nguyen, D. X., et al. (2009). Genes that mediate breast cancer metastasis to the brain. Nature, 459, 1005–1009.PubMedCrossRef

47.

Smid, M., Wang, Y., Zhang, Y., Sieuwerts, A. M., Yu, J., Klijn, J. G., et al. (2008). Subtypes of breast cancer show preferential site of relapse. Cancer Research, 68, 3108–3114.PubMedCrossRef

Title: The present and future of gene profiling in breast cancer
Authors: E. Espinosa
A. Gámez-Pozo
I. Sánchez-Navarro
A. Pinto
C. A. Castañeda
E. Ciruelos
J. Feliu
J. A. Fresno Vara
Publication date: 01-06-2012
Publisher: Springer US
Published in: Cancer and Metastasis Reviews / Issue 1-2/2012
Print ISSN: 0167-7659
Electronic ISSN: 1573-7233
DOI: https://doi.org/10.1007/s10555-011-9327-7

Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

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

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 1-2/2012

Potential roles for prions and protein-only inheritance in cancer

Role of parathymic lymph nodes in metastatic tumor development

Potential molecular targets for inhibiting bone invasion by oral squamous cell carcinoma: a review of mechanisms

Significance of vascular endothelial growth factor in growth and peritoneal dissemination of ovarian cancer

Biological influence of Hakai in cancer: a 10-year review

Cancer stem cells and EMT in carcinoma

Keynote webinar | Spotlight on antibody–drug conjugates in cancer