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Erschienen in: memo - Magazine of European Medical Oncology 1/2014

01.02.2014 | short review

Multi-gene signatures in breast cancer: actual clinical impact

verfasst von: Simon P. Gampenrieder, MD, Gabriel Rinnerthaler, MD, Richard Greil, MD

Erschienen in: memo - Magazine of European Medical Oncology | Ausgabe 1/2014

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Abstract

The molecular pathology has fundamentally modified our understanding of breast cancer. Today, breast cancer is understood as a heterogeneous disease consisting of at least five different subtypes. These subtypes show specific mRNA levels and somatic alterations and derive probably from different precursor cells. Multi-gene signatures enable us not only to differentiate these subtypes but also to define different risk groups for relapse after primary treatment. The clinical impact of these signatures is critically discussed in this review.
Literatur
1.
Zurück zum Zitat Russnes HG, Navin N, Hicks J, Borresen-Dale AL. Insight into the heterogeneity of breast cancer through next-generation sequencing. J Clin Invest. 2011 Oct;121(10):3810–8. PubMed PMID: 21965338. Pubmed Central PMCID: 3195464. Epub 2011/10/04. eng. Russnes HG, Navin N, Hicks J, Borresen-Dale AL. Insight into the heterogeneity of breast cancer through next-generation sequencing. J Clin Invest. 2011 Oct;121(10):3810–8. PubMed PMID: 21965338. Pubmed Central PMCID: 3195464. Epub 2011/10/04. eng.
2.
Zurück zum Zitat Perou CM, Sorlie T, Eisen MB, van de Rijn M, Jeffrey SS, Rees CA, et al. Molecular portraits of human breast tumours. Nature. 2000 Aug 17;406(6797):747–52. PubMed PMID: 10963602. Epub 2000/08/30. eng. Perou CM, Sorlie T, Eisen MB, van de Rijn M, Jeffrey SS, Rees CA, et al. Molecular portraits of human breast tumours. Nature. 2000 Aug 17;406(6797):747–52. PubMed PMID: 10963602. Epub 2000/08/30. eng.
3.
Zurück zum Zitat Sorlie T, Perou CM, Tibshirani R, Aas T, Geisler S, Johnsen H, et al. Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications. Proc Natl Acad Sci U S A. 2001 Sep 11;98(19):10869–74. PubMed PMID: 11553815. Pubmed Central PMCID: 58566. Epub 2001/09/13. eng. Sorlie T, Perou CM, Tibshirani R, Aas T, Geisler S, Johnsen H, et al. Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications. Proc Natl Acad Sci U S A. 2001 Sep 11;98(19):10869–74. PubMed PMID: 11553815. Pubmed Central PMCID: 58566. Epub 2001/09/13. eng.
4.
Zurück zum Zitat Parker JS, Mullins M, Cheang MC, Leung S, Voduc D, Vickery T, et al. Supervised risk predictor of breast cancer based on intrinsic subtypes. J Clin Oncol. 2009 Mar 10;27(8):1160–7. PubMed PMID: 19204204. Pubmed Central PMCID: 2667820. Epub 2009/02/11. eng. Parker JS, Mullins M, Cheang MC, Leung S, Voduc D, Vickery T, et al. Supervised risk predictor of breast cancer based on intrinsic subtypes. J Clin Oncol. 2009 Mar 10;27(8):1160–7. PubMed PMID: 19204204. Pubmed Central PMCID: 2667820. Epub 2009/02/11. eng.
5.
Zurück zum Zitat Prat A, Perou CM. Deconstructing the molecular portraits of breast cancer. Mol Oncol. 2011 Feb;5(1):5–23. PubMed PMID: 21147047. Epub 2010/12/15. eng. Prat A, Perou CM. Deconstructing the molecular portraits of breast cancer. Mol Oncol. 2011 Feb;5(1):5–23. PubMed PMID: 21147047. Epub 2010/12/15. eng.
6.
Zurück zum Zitat Cheang MC, Voduc KD, Tu D, Jiang S, Leung S, Chia SK, et al. Responsiveness of intrinsic subtypes to adjuvant anthracycline substitution in the NCIC.CTG MA.5 randomized trial. Clin Cancer Res. 2012 Apr 15;18(8):2402–12. PubMed PMID: 22351696. Epub 2012/02/22. eng. Cheang MC, Voduc KD, Tu D, Jiang S, Leung S, Chia SK, et al. Responsiveness of intrinsic subtypes to adjuvant anthracycline substitution in the NCIC.CTG MA.5 randomized trial. Clin Cancer Res. 2012 Apr 15;18(8):2402–12. PubMed PMID: 22351696. Epub 2012/02/22. eng.
7.
Zurück zum Zitat Goldhirsch A, Wood WC, Coates AS, Gelber RD, Thurlimann B, Senn HJ. Strategies for subtypes—dealing with the diversity of breast cancer: highlights of the St. Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2011. Ann Oncolcol. 2011 Aug;22(8):1736–47. PubMed PMID: 21709140. Pubmed Central PMCID: 3144634. Epub 2011/06/29. eng. Goldhirsch A, Wood WC, Coates AS, Gelber RD, Thurlimann B, Senn HJ. Strategies for subtypes—dealing with the diversity of breast cancer: highlights of the St. Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2011. Ann Oncolcol. 2011 Aug;22(8):1736–47. PubMed PMID: 21709140. Pubmed Central PMCID: 3144634. Epub 2011/06/29. eng.
8.
Zurück zum Zitat Haibe-Kains B, Desmedt C, Loi S, Culhane AC, Bontempi G, Quackenbush J, et al. A three-gene model to robustly identify breast cancer molecular subtypes. J Natl Cancer Inst. 2012 Feb 22;104(4):311–25. PubMed PMID: 22262870. Pubmed Central PMCID: 3283537. Epub 2012/01/21. eng. Haibe-Kains B, Desmedt C, Loi S, Culhane AC, Bontempi G, Quackenbush J, et al. A three-gene model to robustly identify breast cancer molecular subtypes. J Natl Cancer Inst. 2012 Feb 22;104(4):311–25. PubMed PMID: 22262870. Pubmed Central PMCID: 3283537. Epub 2012/01/21. eng.
9.
Zurück zum Zitat Prat A, Cheang MC, Martin M, Parker JS, Carrasco E, Caballero R, et al. Prognostic significance of progesterone receptor-positive tumor cells within immunohistochemically defined luminal a breast cancer. J Clin Oncol. 2013 Jan 10;31(2):203–9. PubMed PMID: 23233704. Pubmed Central PMCID: 3532392. Epub 2012/12/13. eng. Prat A, Cheang MC, Martin M, Parker JS, Carrasco E, Caballero R, et al. Prognostic significance of progesterone receptor-positive tumor cells within immunohistochemically defined luminal a breast cancer. J Clin Oncol. 2013 Jan 10;31(2):203–9. PubMed PMID: 23233704. Pubmed Central PMCID: 3532392. Epub 2012/12/13. eng.
10.
Zurück zum Zitat Goldhirsch A, Winer EP, Coates AS, Gelber RD, Piccart-Gebhart M, Thurlimann B, et al. Personalizing the treatment of women with early breast cancer: highlights of the St Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2013. Ann Oncol. 2013 Sep;24(9):2206–23. PubMed PMID: 23917950. Pubmed Central PMCID: 3755334. Epub 2013/08/07. eng. Goldhirsch A, Winer EP, Coates AS, Gelber RD, Piccart-Gebhart M, Thurlimann B, et al. Personalizing the treatment of women with early breast cancer: highlights of the St Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2013. Ann Oncol. 2013 Sep;24(9):2206–23. PubMed PMID: 23917950. Pubmed Central PMCID: 3755334. Epub 2013/08/07. eng.
11.
Zurück zum Zitat Nielsen TO, Polley MY-C, Leung SCY, Mastropasqua MG, Zabaglo LA, Bartlett JMS, et al. An international Ki67 reproducibility study. Cancer Res. 2012;72(24 Suppl.):Abstr. S4–6. Nielsen TO, Polley MY-C, Leung SCY, Mastropasqua MG, Zabaglo LA, Bartlett JMS, et al. An international Ki67 reproducibility study. Cancer Res. 2012;72(24 Suppl.):Abstr. S4–6.
12.
Zurück zum Zitat Jerevall PL, Ma XJ, Li H, Salunga R, Kesty NC, Erlander MG, et al. Prognostic utility of HOXB13:IL17BR and molecular grade index in early-stage breast cancer patients from the Stockholm trial. Br J Cancer. 2011 May 24;104(11):1762–9. PubMed PMID: 21559019. Pubmed Central PMCID: 3111159. Epub 2011/05/12. eng. Jerevall PL, Ma XJ, Li H, Salunga R, Kesty NC, Erlander MG, et al. Prognostic utility of HOXB13:IL17BR and molecular grade index in early-stage breast cancer patients from the Stockholm trial. Br J Cancer. 2011 May 24;104(11):1762–9. PubMed PMID: 21559019. Pubmed Central PMCID: 3111159. Epub 2011/05/12. eng.
13.
Zurück zum Zitat 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 Aug 1;19(15):4196–205. PubMed PMID: 23757354. Epub 2013/06/13. eng. 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 Aug 1;19(15):4196–205. PubMed PMID: 23757354. Epub 2013/06/13. eng.
14.
Zurück zum Zitat 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 Aug 15;133(4):929–36. PubMed PMID: 23371464. Epub 2013/02/02. eng. 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 Aug 15;133(4):929–36. PubMed PMID: 23371464. Epub 2013/02/02. eng.
15.
Zurück zum Zitat 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 Oct;14(11):1067–76. PubMed PMID: 24035531. Epub 2013/09/17. eng. 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 Oct;14(11):1067–76. PubMed PMID: 24035531. Epub 2013/09/17. eng.
16.
Zurück zum Zitat Dubsky P, Brase JC, Fisch K, Jakesz R, Singer CF, Greil R, et al. The EndoPredict score identifies late distant metastases in ER+/HER2− breast cancer patients. Cancer Res. 2012;72(24 Suppl. 3):Abstr. S4–3. Dubsky P, Brase JC, Fisch K, Jakesz R, Singer CF, Greil R, et al. The EndoPredict score identifies late distant metastases in ER+/HER2− breast cancer patients. Cancer Res. 2012;72(24 Suppl. 3):Abstr. S4–3.
17.
Zurück zum Zitat Gnant M, Filipits M, Dubsky P, Rudas M, Balic M, Greil R, et al. Predicting risk for late metastasis: the PAM50 Risk of Recurrence (ROR) score after 5 years of endocrine therapy in postmenopausal women with HR+ early breast cancer: a study on 1,478 patients from the ABCSG-8 trial. Ann Oncol. 2013;24(Suppl. 3):Abstr. 53O_PR:iii29. Gnant M, Filipits M, Dubsky P, Rudas M, Balic M, Greil R, et al. Predicting risk for late metastasis: the PAM50 Risk of Recurrence (ROR) score after 5 years of endocrine therapy in postmenopausal women with HR+ early breast cancer: a study on 1,478 patients from the ABCSG-8 trial. Ann Oncol. 2013;24(Suppl. 3):Abstr. 53O_PR:iii29.
18.
Zurück zum Zitat Italiano A. Prognostic or predictive? It’s time to get back to definitions! J Clin Oncol. 2011 Dec 10;29(35):4718. Author reply 4719. PubMed PMID: 22042948. Epub 2011/11/02. eng. Italiano A. Prognostic or predictive? It’s time to get back to definitions! J Clin Oncol. 2011 Dec 10;29(35):4718. Author reply 4719. PubMed PMID: 22042948. Epub 2011/11/02. eng.
19.
Zurück zum Zitat 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 Aug 10;24(23):3726–34. PubMed PMID: 16720680. Epub 2006/05/25. eng. 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 Aug 10;24(23):3726–34. PubMed PMID: 16720680. Epub 2006/05/25. eng.
20.
Zurück zum Zitat Albain KS, Barlow WE, Shak S, Hortobagyi GN, Livingston RB, Yeh IT, 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 Jan;11(1):55–65. PubMed PMID: 20005174. Pubmed Central PMCID: 3058239. Epub 2009/12/17. eng. Albain KS, Barlow WE, Shak S, Hortobagyi GN, Livingston RB, Yeh IT, 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 Jan;11(1):55–65. PubMed PMID: 20005174. Pubmed Central PMCID: 3058239. Epub 2009/12/17. eng.
21.
Zurück zum Zitat Teutsch SM, Bradley LA, Palomaki GE, Haddow JE, Piper M, Calonge N, et al. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP Working Group. Genet Med. 2009 Jan;11(1):3–14. PubMed PMID: 18813139. Pubmed Central PMCID: 2743609. Epub 2008/09/25. eng. Teutsch SM, Bradley LA, Palomaki GE, Haddow JE, Piper M, Calonge N, et al. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP Working Group. Genet Med. 2009 Jan;11(1):3–14. PubMed PMID: 18813139. Pubmed Central PMCID: 2743609. Epub 2008/09/25. eng.
22.
Zurück zum Zitat 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 Mar;24(3):647–54. PubMed PMID: 23337633. Epub 2013/01/23. eng. 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 Mar;24(3):647–54. PubMed PMID: 23337633. Epub 2013/01/23. eng.
23.
Zurück zum Zitat 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 Nov 20;25(33):5287–312. PubMed PMID: 17954709. Epub 2007/10/24. eng. 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 Nov 20;25(33):5287–312. PubMed PMID: 17954709. Epub 2007/10/24. eng.
24.
Zurück zum Zitat Cardoso F, Kyriakides S, Penault-Llorca F, Poortmans P, Senkus E, Thompson A, et al. Primary breast cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2013;24(Suppl. 6):vi7–vi23. Cardoso F, Kyriakides S, Penault-Llorca F, Poortmans P, Senkus E, Thompson A, et al. Primary breast cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2013;24(Suppl. 6):vi7–vi23.
25.
Zurück zum Zitat National Institute for Health and Care Excellence (NICE): DG10 Gene expression profiling and expanded immunohistochemistry tests for guiding adjuvant chemotherapy decisions in early breast cancer management: MammaPrint, Oncotype DX, IHC4 and Mammostrat: guidance 2013. Updated 26 September 2013. http://www.nice.org.uk/dg10. Accessed: Dec. 2013. National Institute for Health and Care Excellence (NICE): DG10 Gene expression profiling and expanded immunohistochemistry tests for guiding adjuvant chemotherapy decisions in early breast cancer management: MammaPrint, Oncotype DX, IHC4 and Mammostrat: guidance 2013. Updated 26 September 2013. http://​www.​nice.​org.​uk/​dg10. Accessed: Dec. 2013.
Metadaten
Titel
Multi-gene signatures in breast cancer: actual clinical impact
verfasst von
Simon P. Gampenrieder, MD
Gabriel Rinnerthaler, MD
Richard Greil, MD
Publikationsdatum
01.02.2014
Verlag
Springer Vienna
Erschienen in
memo - Magazine of European Medical Oncology / Ausgabe 1/2014
Print ISSN: 1865-5041
Elektronische ISSN: 1865-5076
DOI
https://doi.org/10.1007/s12254-014-0130-3

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