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Firmas genéticas para cáncer de mama, utilidad clínica y aplicaciones terapéuticas
Resumen
Las firmas genéticas cuantifican receptores hormonales y genes de proliferación, combinando modelos de predicción multivariados. Tumores hormono-negativos tienen mayor proliferación y el valor pronóstico es limitado. La primera generación de firmas de pronóstico (Oncotype DX, MammaPrint, Índice de grado genómico) predicen recurrencia a 5 años. Las pruebas subsecuentes (Prosigna, EndoPredict, Índice de Cáncer de Mama) poseen mejor valor pronóstico para recurrencia y son predictivas de recaída temprana. No existen pruebas genéticas pronósticas útiles para tumores hormono-negativos, ni predictores de respuesta al tratamiento. La reciente expansión de las plataformas tecnológicas de alto rendimiento incluyendo la secuenciación de bajo costo de DNA derivado del tumor y RNA circulante y la cuantificación rápida fiable de microARN ofrecen nuevas oportunidades para construir modelos de predicción.
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Referencias
Sotiriou C, Pusztai L. Gene-expression signatures in breast cancer. N Engl J Med. 2009;360(8):790-800.
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(33):5287-5312.
Cuzick J, Dowsett M, Pineda S, Wale C, Salter J, Quinn E, et al. Prognostic value of a combined estrogen receptor, progesterone receptor, Ki-67, and human epidermal growth factor receptor 2 immunohistochemical score and comparison with the Genomic Health recurrence score in early breast cancer. J Clin Oncol. 2011;29(32):4273-4278.
Jankowitz RC, Cooper K, Erlander MG, Ma XJ, Kesty NC, Li H, et al. Prognostic utility of the breast cancer index and comparison to Adjuvant! Online in a clinical case series of early breast cancer. Breast Cancer Res. 2011;13(5):1.
Iwamoto T, Lee JS, Bianchini G, Hubbard RE, Young E, Matsuoka J, et al. First generation prognostic gene signatures for breast cancer predict both survival and chemotherapy sensitivity and identify overlapping patient populations. Breast Cancer Res Treat. 2011;130(1):155-164.
Prat A, Parker JS, Fan C, Cheang MC, Miller LD, Bergh J, et al. Concordance among gene expression-based predictors for ER-positive breast cancer treated with adjuvant tamoxifen. Ann Oncol. 2012;23:2866-2873.
Bianchini G, Qi Y, Alvarez RH, Iwamoto T, Coutant C, Ibrahim NK, et al. Molecular anatomy of breast cancer stroma and its prognostic value in estrogen receptor-positive and negative cancers. J Clin Oncol. 2010;28(28):4316-4323.
Hess KR, Wei C, Qi Y, Iwamoto T, Symmans WF, Pusztai L. Lack of sufficiently strong informative features limits the potential of gene expression analysis as predictive tool for many clinical classification problems. BMC Bioinformatics. 2011;12:463.
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(2):295-302.
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(3):655-661.
Mittempergher L, de Ronde JJ, Nieuwland M, Kerkhoven RM, Simon I, Rutgers EJ, et al. Gene expression profiles from formalin fixed paraffin embedded breast cancer tissue are largely comparable to fresh frozen matched tissue. PLoS One. 2011;6(2):e17163.
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. New England Journal of Medicine. 2002;347(25):1999-2009.
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(27):2817-2826.
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. 2013;133(4):929-936.
Klein ME, Dabbs DJ, Shuai Y, Brufsky AM, Jankowitz R, Puhalla SL, et al. Prediction of the Oncotype DX recurrence score: use of pathology-generated equations derived by linear regression analysis. Mod Pathol. 2013;26:658-64.
Sorlie T, Tibshirani R, Parker J, Hastie T, Marron JS, Nobel A, et al. Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci U S A. 2003;100(14):8418-8423.
Sotiriou C, Wirapati P, Loi S, Harris A, Fox S, Smeds J, et al. Gene expression profiling in breast cancer: understanding the molecular basis of histologic grade to improve prognosis. J Natl Cancer Inst. 2006;98(4):262-272.
Toussaint J, Sieuwerts AM, Haibe-Kains B, Desmedt C, Rouas G, Harris AL, et al. Improvement of the clinical applicability of the Genomic Grade Index through a qRT-PCR test performed on frozen and formalin-fixed paraffin-embedded tissues. BMC Genomics. 2009;10:424.
Ma XJ, Salunga R, Dahiya S, Wang W, Carney E, Durbecq V, et al. A five-gene molecular grade index and HOXB13:IL17BR are complementary prognostic factors in early stage breast cancer. Clin Cancer Res. 2008;14(9):2601-8.
Sgroi DC, Sestak I, Cuzick J, Zhang Y, Schnabel CA, Schroeder B, et al. Prediction of late distant recurrence in patients with oestrogen-receptor-positive breast cancer: a prospective comparison of the breast-cancer index (BCI) assay, 21-gene recurrence score, and IHC4 in the TransATAC study population. Lancet Oncol. 2013;14(11):1067-76.
Filipits M, Rudas M, Jakesz R, Dubsky P, Fitzal F, Singer CF, et al. 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(18):6012-20.
Dubsky P, Filipits M, Jakesz R, Rudas M, Singer CF, Greil R, et al. EndoPredict improves the prognostic classification derived from common clinical guidelines in ER-positive, HER2-negative early breast cancer. Ann Oncol. 2013;24(3):640-7.
Muller BM, Keil E, Lehmann A, Winzer KJ, Richter-Ehrenstein C, Prinzler J, et al. The EndoPredict gene-expression assay in clinical practice-performance and impact on clinical decisions. PLoS One. 2013;8(6):e68252.
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(4):492-8.
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.
Shivers S, Clark L, Esposito N, Howard N, King J, Acs G, et al. Direct comparison of risk classification between MammaPrint®, Oncotype DX® and MammoStrat® assays in patients with early stage breast cancer [abstract]. Cancer Res. 2013;73(24 Suppl):6.
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(23):3726-34.
Harris LN, Ismaila N, MShane LM, Andre F, Collyar DE. Use of biomarkers to guide decisions on adjuvant systemic therapy for women with early-stage invasive breast cancer: American Society of Clinical Oncology Clinical Practice Guideline. L Clin Oncol. 2016;34:1134.
Paik S, Shak S, Tang G, Kim C, Baker J, Croning M, et al: A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. N Engl J Med. 2004;351(27):2817-26.
Paik S, Tang G, Shak S, Kim C, Baker J, Croning M, et al: Gene expression and benefit of chemotherapy in women with node-negative, estrogen receptor-positive breast cancer. J Clin Oncol. 2006;24:3726-3734, 2006.
Albain KS, Barlow WE, Shak S, Hortobagyi GN, Livingston RB, Yeh IT, Ravdin P, et al. Prognostic and predictive value of the 21-gene recurrence score assay in postmenopausal women with node-positive, estrogen-receptor-positive breast cancer on chemotherapy: A retrospective analysis of a randomized trial. Lancet Oncol. 2010;11(1):55-65.
Knauer M, Cardoso F, Wesseling J, Bedard PL, Linn SC, Rutgers EJT, et al. Identification of a low-risk subgroup of HER-2-positive breast cancer by the 70-gene prognosis signature. Br J Cancer. 2010;103(12):1788-1793.
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(22):2783-2790.
Zhang Y, Schnabel CA, Schroeder BE, Jerevall PL, Jankowitz RC, Fornander T, et al. Breast cancer index identifies early-stage estrogen receptor-positive breast cancer patients at risk for early- and late-distant recurrence. Clin Cancer Res. 2013;19(15):4196-4205.
Harbeck N, Schmitt M, Meisner C, Friedel C, Untch M, Schmidt M, et al. Ten-year analysis of the prospective multicentre Chemo-N0 trial validates American Society of Clinical Oncology (ASCO)-recommended biomarkers uPA and PAI-1 for therapy decision-making in node-negative breast cancer patients. Eur J Cancer. 2013;49(8):1825-1835.
Hatzis C, Pusztai L, Valero V, Booser DJ, Esserman L, Lluch A, et al. A genomic predictor of response and survival following taxane-anthracycline chemotherapy for invasive breast cancer. JAMA. 2011;305(18):1873-81.
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