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Erschienen in: Annals of Surgical Oncology 2/2018

20.11.2017 | Breast Oncology

Molecular Genomic Testing for Breast Cancer: Utility for Surgeons

verfasst von: Oluwadamilola M. Fayanju, MD, MA, MPHS, Ko Un Park, MD, Anthony Lucci, MD, FACS

Erschienen in: Annals of Surgical Oncology | Ausgabe 2/2018

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Abstract

Molecular genomic testing provides clinicians with both prognostic and (sometimes) predictive information that can help individualize treatment and decrease the risk of over- or under-treatment. We review the genomic tests that are currently available for clinical use in management of breast cancer, discuss ongoing research related to validating and expanding their utility in different patient populations, and explain why it is important for surgeons to know how to incorporate these tools into their clinical practice in order to individualize patient treatment, reduce unnecessary morbidity, and, accordingly, improve outcomes.
Literatur
1.
Zurück zum Zitat Joh JE, Esposito NN, Kiluk JV, et al. The effect of Oncotype DX recurrence score on treatment recommendations for patients with estrogen receptor-positive early stage breast cancer and correlation with estimation of recurrence risk by breast cancer specialists. Oncologist. 2011;16:1520–1526.CrossRefPubMedPubMedCentral Joh JE, Esposito NN, Kiluk JV, et al. The effect of Oncotype DX recurrence score on treatment recommendations for patients with estrogen receptor-positive early stage breast cancer and correlation with estimation of recurrence risk by breast cancer specialists. Oncologist. 2011;16:1520–1526.CrossRefPubMedPubMedCentral
2.
Zurück zum Zitat Paik S, Shak S, Tang G, et al. Multi-gene RT-PCR assay for predicting recurrence in node negative breast cancer patients–NSABP studies B-20 and B-14. Breast Cancer Res Treat. 2003;82:A16. Paik S, Shak S, Tang G, et al. Multi-gene RT-PCR assay for predicting recurrence in node negative breast cancer patients–NSABP studies B-20 and B-14. Breast Cancer Res Treat. 2003;82:A16.
3.
Zurück zum Zitat Cobleigh MA, Tabesh B, Bitterman P, et al. Tumor gene expression and prognosis in breast cancer patients with 10 or more positive lymph nodes. Clin Cancer Res. 2005;11:8623–8631.CrossRefPubMed Cobleigh MA, Tabesh B, Bitterman P, et al. Tumor gene expression and prognosis in breast cancer patients with 10 or more positive lymph nodes. Clin Cancer Res. 2005;11:8623–8631.CrossRefPubMed
4.
Zurück zum Zitat Esteban J, Baker J, Cronin M, et al. Tumor gene expression and prognosis in breast cancer: multi-gene RT-PCR assay of paraffin-embedded tissue. Proc Am Soc Clin Oncol. 2003;22:850. Esteban J, Baker J, Cronin M, et al. Tumor gene expression and prognosis in breast cancer: multi-gene RT-PCR assay of paraffin-embedded tissue. Proc Am Soc Clin Oncol. 2003;22:850.
5.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
6.
Zurück zum Zitat Paik S, Tang G, Shak S, 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.CrossRefPubMed Paik S, Tang G, Shak S, 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.CrossRefPubMed
7.
Zurück zum Zitat Rakovitch E, Nofech-Mozes S, Hanna W, et al. A population-based validation study of the DCIS Score predicting recurrence risk in individuals treated by breast-conserving surgery alone. Breast Cancer Res Treat. 2015;152:389–398.CrossRefPubMedPubMedCentral Rakovitch E, Nofech-Mozes S, Hanna W, et al. A population-based validation study of the DCIS Score predicting recurrence risk in individuals treated by breast-conserving surgery alone. Breast Cancer Res Treat. 2015;152:389–398.CrossRefPubMedPubMedCentral
8.
Zurück zum Zitat Solin LJ, Gray R, Baehner FL, et al. A multigene expression assay to predict local recurrence risk for ductal carcinoma in situ of the breast. J Natl Cancer Inst. 2013;105(10):701–710.CrossRefPubMedPubMedCentral Solin LJ, Gray R, Baehner FL, et al. A multigene expression assay to predict local recurrence risk for ductal carcinoma in situ of the breast. J Natl Cancer Inst. 2013;105(10):701–710.CrossRefPubMedPubMedCentral
9.
Zurück zum Zitat Sparano JA, Gray RJ, Makower DF, et al. Prospective validation of a 21-gene expression assay in breast cancer. N Engl J Med. 2015;373:2005–2014.CrossRefPubMedPubMedCentral Sparano JA, Gray RJ, Makower DF, et al. Prospective validation of a 21-gene expression assay in breast cancer. N Engl J Med. 2015;373:2005–2014.CrossRefPubMedPubMedCentral
10.
Zurück zum Zitat Gluz O, Nitz UA, Christgen M, et al. West German Study Group Phase III PlanB Trial: first prospective outcome data for the 21-gene recurrence score assay and concordance of prognostic markers by central and local pathology assessment. J Clin Oncol. 2016;34(20): 2341–2349.CrossRefPubMed Gluz O, Nitz UA, Christgen M, et al. West German Study Group Phase III PlanB Trial: first prospective outcome data for the 21-gene recurrence score assay and concordance of prognostic markers by central and local pathology assessment. J Clin Oncol. 2016;34(20): 2341–2349.CrossRefPubMed
11.
Zurück zum Zitat AJCC Cancer Staging Manual. Springer, New York; 2017. AJCC Cancer Staging Manual. Springer, New York; 2017.
12.
Zurück zum Zitat Hayes DF. Targeting adjuvant chemotherapy: a good idea that needs to be proven! J Clin Oncol. 2012;30:1264–1267.CrossRefPubMed Hayes DF. Targeting adjuvant chemotherapy: a good idea that needs to be proven! J Clin Oncol. 2012;30:1264–1267.CrossRefPubMed
13.
Zurück zum Zitat Albain KS, Barlow WE, Shak S, 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.CrossRefPubMed Albain KS, Barlow WE, Shak S, 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.CrossRefPubMed
14.
Zurück zum Zitat Mamounas EP, Bryant J, Lembersky B, et al. Paclitaxel after doxorubicin plus cyclophosphamide as adjuvant chemotherapy for node-positive breast cancer: results from NSABP B-28. J Clin Oncol. 2005;23:3686–3696.CrossRefPubMed Mamounas EP, Bryant J, Lembersky B, et al. Paclitaxel after doxorubicin plus cyclophosphamide as adjuvant chemotherapy for node-positive breast cancer: results from NSABP B-28. J Clin Oncol. 2005;23:3686–3696.CrossRefPubMed
15.
Zurück zum Zitat Zanotti L, Bottini A, Rossi C, et al. Diagnostic tests based on gene expression profile in breast cancer: from background to clinical use. Tumor Biol. 2014;35:8461–8470.CrossRef Zanotti L, Bottini A, Rossi C, et al. Diagnostic tests based on gene expression profile in breast cancer: from background to clinical use. Tumor Biol. 2014;35:8461–8470.CrossRef
16.
Zurück zum Zitat Dabbs DJ, Klein ME, Mohsin SK, et al. 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;29:4279–4285.CrossRefPubMed Dabbs DJ, Klein ME, Mohsin SK, et al. 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;29:4279–4285.CrossRefPubMed
17.
Zurück zum Zitat Symmans WF, Wei C, Gould R, et al. Long-term prognostic risk after neoadjuvant chemotherapy associated with residual cancer burden and breast cancer subtype. J Clin Oncol. 2017;35:1049–1060.CrossRefPubMed Symmans WF, Wei C, Gould R, et al. Long-term prognostic risk after neoadjuvant chemotherapy associated with residual cancer burden and breast cancer subtype. J Clin Oncol. 2017;35:1049–1060.CrossRefPubMed
18.
Zurück zum Zitat Yardley DA, Peacock NW, Shastry M, et al. A phase II trial of ixabepilone and cyclophosphamide as neoadjuvant therapy for patients with HER2-negative breast cancer: correlation of pathologic complete response with the 21-gene recurrence score. Breast Cancer Res Treat. 2015;154:299–308.CrossRefPubMed Yardley DA, Peacock NW, Shastry M, et al. A phase II trial of ixabepilone and cyclophosphamide as neoadjuvant therapy for patients with HER2-negative breast cancer: correlation of pathologic complete response with the 21-gene recurrence score. Breast Cancer Res Treat. 2015;154:299–308.CrossRefPubMed
19.
Zurück zum Zitat Bear HD, Wan W, Robidoux A, et al. Using the 21-gene assay from core needle biopsies to choose neoadjuvant therapy for breast cancer: a multicenter trial. J Surg Oncol. 2017;115:917–923.CrossRefPubMed Bear HD, Wan W, Robidoux A, et al. Using the 21-gene assay from core needle biopsies to choose neoadjuvant therapy for breast cancer: a multicenter trial. J Surg Oncol. 2017;115:917–923.CrossRefPubMed
20.
Zurück zum Zitat Shak S, Petkov V, Miller D, et al. Abstract P5-15-01: breast cancer specific survival in 38,568 patients with node negative hormone receptor positive invasive breast cancer and oncotype DX recurrence score results in the SEER database. Cancer Res. 2016;76:P5–P15.CrossRef Shak S, Petkov V, Miller D, et al. Abstract P5-15-01: breast cancer specific survival in 38,568 patients with node negative hormone receptor positive invasive breast cancer and oncotype DX recurrence score results in the SEER database. Cancer Res. 2016;76:P5–P15.CrossRef
21.
Zurück zum Zitat Stemmer S, Steiner M, Rizel S, et al. Abstract P5-08-02: Real-life analysis evaluating 1594 N0/Nmic breast cancer patients for whom treatment decisions incorporated the 21-gene recurrence score result: 5-year KM estimate for breast cancer specific survival with recurrence score results ≤ 30 is > 98%. Cancer Res. 2016;76:P5–08.CrossRef Stemmer S, Steiner M, Rizel S, et al. Abstract P5-08-02: Real-life analysis evaluating 1594 N0/Nmic breast cancer patients for whom treatment decisions incorporated the 21-gene recurrence score result: 5-year KM estimate for breast cancer specific survival with recurrence score results ≤ 30 is > 98%. Cancer Res. 2016;76:P5–08.CrossRef
22.
Zurück zum Zitat Mook S, Veer L, Rutgers EJT, et al. Individualization of therapy using Mammaprint®ì: from development to the MINDACT Trial. Cancer Genom Proteom. 2007;4:147–155.PubMed Mook S, Veer L, Rutgers EJT, et al. Individualization of therapy using Mammaprint®ì: from development to the MINDACT Trial. Cancer Genom Proteom. 2007;4:147–155.PubMed
23.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
24.
Zurück zum Zitat Cardoso F, Piccart-Gebhart M, Van’t Veer L, Rutgers E. The MINDACT trial: The first prospective clinical validation of a genomic tool. Mol Oncol. 2007;1:246–251.CrossRefPubMedPubMedCentral Cardoso F, Piccart-Gebhart M, Van’t Veer L, Rutgers E. The MINDACT trial: The first prospective clinical validation of a genomic tool. Mol Oncol. 2007;1:246–251.CrossRefPubMedPubMedCentral
25.
Zurück zum Zitat Liu J. Model Selection/Validation. In: Cosmatos D, Chow S-C (eds) Translational medicine: strategies and statistical methods. Boca Raton, FL: Chapman and Hall/CRC, Taylor & Francis Group; 2009. Liu J. Model Selection/Validation. In: Cosmatos D, Chow S-C (eds) Translational medicine: strategies and statistical methods. Boca Raton, FL: Chapman and Hall/CRC, Taylor & Francis Group; 2009.
26.
Zurück zum Zitat Cardoso F, van’t Veer LJ, Bogaerts J, et al. 70-Gene signature as an aid to treatment decisions in early-stage breast cancer. N Engl J Med. 2016;375:717–729.CrossRefPubMed Cardoso F, van’t Veer LJ, Bogaerts J, et al. 70-Gene signature as an aid to treatment decisions in early-stage breast cancer. N Engl J Med. 2016;375:717–729.CrossRefPubMed
27.
Zurück zum Zitat Drukker CA, Bueno-de-Mesquita JM, Retèl VP, et al. A prospective evaluation of a breast cancer prognosis signature in the observational RASTER study. Int J Cancer. 2013;133:929–936.CrossRefPubMedPubMedCentral Drukker CA, Bueno-de-Mesquita JM, Retèl VP, et al. A prospective evaluation of a breast cancer prognosis signature in the observational RASTER study. Int J Cancer. 2013;133:929–936.CrossRefPubMedPubMedCentral
28.
Zurück zum Zitat Bartlett JM, Thomas J, Ross DT, et al. Mammostrat® as a tool to stratify breast cancer patients at risk of recurrence during endocrine therapy. Breast Cancer Res. 2010;12:1–11. Bartlett JM, Thomas J, Ross DT, et al. Mammostrat® as a tool to stratify breast cancer patients at risk of recurrence during endocrine therapy. Breast Cancer Res. 2010;12:1–11.
29.
Zurück zum Zitat Nielsen T, Wallden B, Schaper C, et al. Analytical validation of the PAM50-based prosigna breast cancer prognostic gene signature assay and nCounter Analysis System using formalin-fixed paraffin-embedded breast tumor specimens. BMC Cancer. 2014;14:1.CrossRef Nielsen T, Wallden B, Schaper C, et al. Analytical validation of the PAM50-based prosigna breast cancer prognostic gene signature assay and nCounter Analysis System using formalin-fixed paraffin-embedded breast tumor specimens. BMC Cancer. 2014;14:1.CrossRef
30.
Zurück zum Zitat Ma XJ, Salunga R, Dahiya S, et al. A five-gene molecular grade index and HOXB13:IL17BR are complementary prognostic factors in early stage breast cancer. Clin Cancer Res. 2008;14:2601–2608.CrossRefPubMed Ma XJ, Salunga R, Dahiya S, et al. A five-gene molecular grade index and HOXB13:IL17BR are complementary prognostic factors in early stage breast cancer. Clin Cancer Res. 2008;14:2601–2608.CrossRefPubMed
31.
Zurück zum Zitat Link JS, Buck LJ, Kapoor NS. The breast cancer index as a tool in decision making for adjuvant hormonal therapy in early luminal breast cancer: Initiation, withdrawal and continuance. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8–12. Cancer Res. 2016;72: Abstract nr P5-08-10. Link JS, Buck LJ, Kapoor NS. The breast cancer index as a tool in decision making for adjuvant hormonal therapy in early luminal breast cancer: Initiation, withdrawal and continuance. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8–12. Cancer Res. 2016;72: Abstract nr P5-08-10.
32.
Zurück zum Zitat Dubsky P, Filipits M, Jakesz R, et al. EndoPredict improves the prognostic classification derived from common clinical guidelines in ER-positive, HER2-negative early breast cancer. Ann Oncol. 2013;24:640–647.CrossRefPubMed Dubsky P, Filipits M, Jakesz R, et al. EndoPredict improves the prognostic classification derived from common clinical guidelines in ER-positive, HER2-negative early breast cancer. Ann Oncol. 2013;24:640–647.CrossRefPubMed
33.
34.
Zurück zum Zitat Liedtke C, Hatzis C, Symmans WF, et al. Genomic grade index is associated with response to chemotherapy in patients with breast cancer. J Clin Oncol. 2009;27:3185–3191.CrossRefPubMedPubMedCentral Liedtke C, Hatzis C, Symmans WF, et al. Genomic grade index is associated with response to chemotherapy in patients with breast cancer. J Clin Oncol. 2009;27:3185–3191.CrossRefPubMedPubMedCentral
35.
Zurück zum Zitat Cuzick J, Dowsett M, Pineda S, 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;29:4273–4278.CrossRefPubMed Cuzick J, Dowsett M, Pineda S, 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;29:4273–4278.CrossRefPubMed
36.
Zurück zum Zitat Bartlett JM, Bayani J, Marshall A, et al. Comparing breast cancer multiparameter tests in the OPTIMA Prelim trial: no test is more equal than the others. J Natl Cancer Inst. 2016;108:djw050.CrossRef Bartlett JM, Bayani J, Marshall A, et al. Comparing breast cancer multiparameter tests in the OPTIMA Prelim trial: no test is more equal than the others. J Natl Cancer Inst. 2016;108:djw050.CrossRef
38.
Zurück zum Zitat Rakha EA, Soria D, Green AR, et al. Nottingham prognostic index plus (NPI+): a modern clinical decision making tool in breast cancer. Br J Cancer. 2014;110:1688–1697.CrossRefPubMedPubMedCentral Rakha EA, Soria D, Green AR, et al. Nottingham prognostic index plus (NPI+): a modern clinical decision making tool in breast cancer. Br J Cancer. 2014;110:1688–1697.CrossRefPubMedPubMedCentral
39.
Zurück zum Zitat Green AR, Soria D, Stephen J, et al. Nottingham prognostic index plus: validation of a clinical decision making tool in breast cancer in an independent series. J Pathol Clin Res. 2016;2:32–40.CrossRefPubMedPubMedCentral Green AR, Soria D, Stephen J, et al. Nottingham prognostic index plus: validation of a clinical decision making tool in breast cancer in an independent series. J Pathol Clin Res. 2016;2:32–40.CrossRefPubMedPubMedCentral
40.
Zurück zum Zitat Sinn P, Aulmann S, Wirtz R, et al. Multigene assays for classification, prognosis, and prediction in breast cancer: a critical review on the background and clinical utility. Geburtshilfe Frauenheilkd. 2013;73:932–940.CrossRefPubMedPubMedCentral Sinn P, Aulmann S, Wirtz R, et al. Multigene assays for classification, prognosis, and prediction in breast cancer: a critical review on the background and clinical utility. Geburtshilfe Frauenheilkd. 2013;73:932–940.CrossRefPubMedPubMedCentral
41.
Zurück zum Zitat D’Alfonso TM, van Laar RK, Vahdat LT, et al. BreastPRS is a gene expression assay that stratifies intermediate-risk Oncotype DX patients into high- or low-risk for disease recurrence. Breast Cancer Res Treat. 2013;139:705–715.CrossRefPubMed D’Alfonso TM, van Laar RK, Vahdat LT, et al. BreastPRS is a gene expression assay that stratifies intermediate-risk Oncotype DX patients into high- or low-risk for disease recurrence. Breast Cancer Res Treat. 2013;139:705–715.CrossRefPubMed
42.
Zurück zum Zitat Tutt A, Wang A, Rowland C, et al. Risk estimation of distant metastasis in node-negative, estrogen receptor-positive breast cancer patients using an RT-PCR based prognostic expression signature. BMC Cancer. 2008;8:339.CrossRefPubMedPubMedCentral Tutt A, Wang A, Rowland C, et al. Risk estimation of distant metastasis in node-negative, estrogen receptor-positive breast cancer patients using an RT-PCR based prognostic expression signature. BMC Cancer. 2008;8:339.CrossRefPubMedPubMedCentral
Metadaten
Titel
Molecular Genomic Testing for Breast Cancer: Utility for Surgeons
verfasst von
Oluwadamilola M. Fayanju, MD, MA, MPHS
Ko Un Park, MD
Anthony Lucci, MD, FACS
Publikationsdatum
20.11.2017
Verlag
Springer International Publishing
Erschienen in
Annals of Surgical Oncology / Ausgabe 2/2018
Print ISSN: 1068-9265
Elektronische ISSN: 1534-4681
DOI
https://doi.org/10.1245/s10434-017-6254-z

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