nach oben

Current Breast Cancer Reports

Erschienen in:

03.05.2016 | Biomarkers (S Dawood, Section Editor)

Comprehensive Gene Mutation Profiling of Breast Tumors: Is It Ready for Prime Time Use?

verfasst von: Vaibhav Choudhary, Sudeep Gupta

Erschienen in: Current Breast Cancer Reports | Ausgabe 2/2016

Einloggen, um Zugang zu erhalten

Abstract

Recent advances in molecular biology have led to unprecedented innovations in diagnosis and treatment of breast cancer. The advent of genomics has revolutionized our understanding of breast cancer. It is no longer considered a single disease but several different biologically and molecularly distinct entities. This research has led to commercially available polymerase chain reaction (PCR)-, microarray-, and next generation sequencing (NGS)-based tests which have changed the way oncologists estimate recurrence risk in early stage breast cancer patients. The genomics era has altered the clinicopathologic paradigm of selecting patients for adjuvant cytotoxic chemotherapy. Numerous well designed prospective studies are underway that may establish these molecular assays as basic elements of standard clinical practice in breast cancer diagnostics and therapeutics. In this article, we review the robustnesses and constraints of currently available breast cancer-specific molecular tests and their clinical ramifications.

Arpino G, Generali D, Sapino A, et al. Gene expression profiling in breast cancer: a clinical perspective. The Breast. 2013:22(2);109–20.

Berg AO, Armstrong K, Botkin J, et al. Recommendations from the EGAPP Working Group: can tumor gene expression profiling improve outcomes in patients with breast cancer? Genet Med. 2009;11(1):66–73.

Sørlie T, Perou CM, Tibshirani R, et al. Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications. Proc Natl Acad Sci. 2001;98(19):10869–74.

Pleasance ED, Cheetham RK, Stephens PJ, et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature. 2010;463:191–6.

Chin L, Hahn WC, Getz G, et al. Making sense of cancer genomic data. Genes Dev. 2011;25:534–55.

Prat A, Parker JS, Karginova O, et al. Phenotypic and molecular characterization of the claudin-low intrinsic subtype of breast cancer. Breast Cancer Res. 2010;12:R68

Perou CM, Parker JS, Prat A, et al. Clinical implementation of the intrinsic subtypes of breast cancer. Lancet Oncol. 2010;11:718-9; author reply 20–1.

Perou CM, Sørlie T, Eisen MB, et al. Molecular portraits of human breast tumours. Nature 2000;406:747–52.

Prat A, Perou CM. Deconstructing the molecular portraits of breast cancer. Mol Oncol 2011;5:5–23.

10.

Prat A, Adamo B, Cheang MC, et al. Molecular characterization of basal-like and non-basal-like triple negative breast cancer. Oncologist. 2013;18:123–33.

11.

Lehmann BD, Bauer JA, Chen X, et al. Identification of human triple-negative breast cancer subtypes and preclinical models for selection of targeted therapies. J Clin Invest. 2011;121:2750–67.

12.

Dawson SJ, Rueda OM, Aparicio S, et al. A new genome driven integrated classification of breast cancer and its implications. EMBO J 2013;32:617–28.

13.

Harbeck N, Rody A. Lost in translation? Estrogen receptor status and endocrine responsiveness in breast cancer. J Clin Oncol. 2012;30:686–9.

14.

van’t Veer LJ, Dai H, van de Vijver MJ, et al. Gene expression profiling predicts clinical outcome of breast cancer. Nature. 2002;415(6871):530–6.

15.

Paik S, Shak S, Tang G, Kim C, et al. A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. N Engl J Med 2004;351(27):2817–26.

16.

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(4):262–72.

17.

Rouzier R, Perou CM, Symmans WF, et al. Breast cancer molecular subtypes respond differently to preoperative chemotherapy. Clin Cancer Res. 2005;11(16):5678–85.

18.

Stephens PJ, McBride DJ, Lin ML, et al. Complex landscapes of somatic rearrangement in human breast cancer genomes. Nature. 2009;462:1005–10.

19.

Quail MA, Smith M, Coupland P, et al. A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and IlluminaMiSeq sequencers. BMC Genomics. 2012;13:341.

20.

Mardis ER. Genome sequencing and cancer. Curr Opin Genet Dev. 2012;22:245–250.

21.

Koboldt DC, Steinberg KM, Larson DE, et al. The next-generation sequencing revolution and its impact on genomics. Cell. 2013;155:27–38.

22.

Ellis MJ, Ding L, Shen D, et al. Whole-genome analysis informs breast cancer response to aromatase inhibition. Nature. 2012;486:353–60.

23.

Koboldt DC, Fulton RS, McLellan MD, et al. Comprehensive molecular portraits of human breast tumours. Nature. 2012 ;490:61–70.

24.

Goncalves R, Warner WA, Luo J, et al. New concepts in breast cancer genomics and genetics. Breast Cancer Research. 2014;16(5):460.

25.

Ding L, Ellis MJ, Li S, et al. Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature. 2010;464:999–1005.

26.

Vogelstein B, Papadopoulos N, Velculescu VE, et al. Cancer genome landscapes. Science. 2013; 339:1546–1558.

27.

Kalari S, Pfeifer GP. Identification of driver and passenger DNA methylation in cancer by epigenomic analysis. Adv Genet. 2010;70:277–308.

28.

Bignell GR, Greenman CD, Davies H, et al. Signatures of mutation and selection in the cancer genome. Nature. 2010;463:893–898.

29.

Li S, Shen D, Shao J, et al. Endocrine-therapy-resistant ESR1 variants revealed by genomic characterization of breast-cancer-derived xenografts. Cell Rep. 2013;4:1116–1130.

30.

Liu ET. Functional genomics of cancer. Curr Opin Genet Dev. 2008;18:251–256.

31.

Nakada D, Oguro H, Levi BP, et al. Oestrogen increases haematopoietic stem-cell self-renewal in females and during pregnancy. Nature. 2014;505:555–558.

32.

Samuels Y, Wang Z, Bardelli A, et al. High frequency of mutations of the PIK3CA gene in human cancers. Science. 2004;304:554.

33.

Sanchez CG, Ma CX, Crowder RJ et al. Preclinical modeling of combined phosphatidylinositol-3-kinase inhibition with endocrine therapy for estrogen receptor-positive breast cancer. Breast Cancer Res. 2011;13:R21

34.

Curtis C, Shah SP, Chin SF, et al. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature. 2012;486:346–52.

35.

Stephens PJ, Greenman CD, Fu B, et al. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell 2011;144:27–40.

36.

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.

37.

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.

38.

Parker JS, Mullins M, Cheang MC, et al. Supervised risk predictor of breast cancer based on intrinsic subtypes. J Clin Oncol. 2009;27:1160–1167.

39.

Crowder RJ, Phommaly C, Tao Y, et al. PIK3CA and PIK3CB inhibition produce synthetic lethality when combined with estrogen deprivation in estrogen receptor-positive breast cancer. Cancer Res. 2009; 69:3955–3962.

40.

Baselga J, Campone M, Piccart M, et al. Everolimus in postmenopausal hormone-receptor-positive advanced breast cancer. N Engl J Med. 2012;366:520–529.

41.

Nielsen TO, Parker JS, Leung S, et al. A comparison of PAM 50 intrinsic subtyping with immunohistochemistry and clinical prognostic factors in tamoxifen treated estrogen receptor-positive breast cancer. Clin Cancer Res. 2010;16:5222–5232.

42.

Small GW, Shi YY, Higgins LS, et al. Mitogen-activated protein kinase phosphatase-1 is a mediator of breast cancer chemoresistance. Cancer Res. 2007;67:4459–4466.

43.

Banerji S, Cibulskis K, Rangel-Escareno C, et al. Sequence analysis of mutations and translocations across breast cancer subtypes. Nature. 2012;486:405–409.

44.

Stender JD, Kim K, Charn TH, et al. Genome-wide analysis of estrogen receptor alpha DNA binding and tethering mechanisms identifies Runx1 as a novel tethering factor in receptor-mediated transcriptional activation. Mol Cell Biol. 2010;30:3943–3955.

45.

Won Jeong K, Chodankar R, Purcell DJ, et al. Gene-specific patterns of Co regulator requirements by estrogen receptor-alpha in breast cancer cells. Mol Endocrinol. 2012;26:955–966.

46.

Stumpel DJ, Schneider P, Seslija L, et al. Connectivity mapping identifies HDAC inhibitors for the treatment of t(4;11)-positive infant acute lymphoblastic leukemia. Leukemia.2012; 26:682–692.

47.

Yardley DA, Ismail-Khan R, Klein P. Results of ENCORE 301, a randomized, phase II, doubleblind, placebo-controlled study of exemestane with or without entinostat in postmenopausal women with locally recurrent or metastatic estrogen receptor-positive (ER+) breast cancer progressing on a nonsteroidal aromatase inhibitor (AI). J ClinOncol. 2011;29:abstr 268.

48.

Vassilev LT. MDM2 inhibitors for cancer therapy. Trends Mol Med. 2007; 13:23–31.

49.

Vassilev LT, Vu BT, Graves B, et al. In vivo activation of the p53 pathway by small-molecule antagonists of MDM2. Science. 2004;303:844–848.

50.

Shangary S, Qin D, McEachern D, et al. Temporal activation of p53 by aspecific MDM2 inhibitor is selectively toxic to tumors and leads to complete tumor growth inhibition. Proceedings of the National Academy of Sciences of the United States of America. 2008; 105:3933–3938.

51.

Shangary S, Wang S. Targeting the MDM2-p53 interaction for cancer therapy. Clinical CancerResearch.2008;14:5318–5324.

52.

Harbour JW, Luo RX, Dei Santi A, et al. Cdk phosphorylation triggers sequentialintramolecular interactions that progressively block Rb functions as cells move through G1. Cell. 1999;98:859–869.

53.

Leung BS, Potter AH. Mode of estrogen action on cell proliferative kinetics in CAMA-1 cells. Effect of serum and estrogen. Cancer Invest. 1987;5:187–194.

54.

Sherr CJ. Cancer cell cycles.Science.1996;274:1672–1677.

55.

Sherr CJ, Roberts JM. CDK inhibitors: positive and negative regulators of G1-phase progression. Genes Dev. 1999;13:1501–1512.

56.

Finn RS, Crown JP, Boer K,et al. Results of a randomized Phase 2 study of PD0332991, a cyclin-dependent kinase (CDK) 4/6 inhibitor, in combination with letrozole vs letrozole alone for first-line treatment of ER+/HER2-advanced breast cancer. Ann Oncol. 2012; 23:ii43.

57.

Robinson DR, Wu YM, Vats P, et al. Activating ESR1 mutations in hormone-resistant metastatic breast cancer. Nat Genet. 2013;45(12):1446–51.

58.

Toy W, Shen Y, Won H, et al. ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. Nat Genet. 2013;45(12):1439–45.

59.

Bell D, Berchuck A, Birrer M, et al. Integrated genomic analyses of ovarian carcinoma. Nature. 2011. 29;474(7353):609–15.

60.

Fong PC, Boss DS, Yap TA, et al. Inhibition of poly(ADPribose)polymerase in tumors from BRCA mutation carriers. N Engl J Med. 2009; 361:123–134.

Titel: Comprehensive Gene Mutation Profiling of Breast Tumors: Is It Ready for Prime Time Use?
verfasst von: Vaibhav Choudhary
Sudeep Gupta
Publikationsdatum: 03.05.2016
Verlag: Springer US
Erschienen in: Current Breast Cancer Reports / Ausgabe 2/2016
Print ISSN: 1943-4588
Elektronische ISSN: 1943-4596
DOI: https://doi.org/10.1007/s12609-016-0213-8

Neu im Fachgebiet Onkologie

25.04.2024 | Nierenkarzinom | Nachrichten

Springer Medizin

Comprehensive Gene Mutation Profiling of Breast Tumors: Is It Ready for Prime Time Use?

Abstract

Neu im Fachgebiet Onkologie

Adjuvante Immuntherapie verlängert Leben bei RCC

Alectinib verbessert krankheitsfreies Überleben bei ALK-positivem NSCLC

Bei Senioren mit Prostatakarzinom auf Anämie achten!

ICI-Therapie in der Schwangerschaft wird gut toleriert

Update Onkologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 2/2016

New Developments in Assessing Risk of Local Recurrence in Patients with Ductal Carcinoma In Situ after Lumpectomy and Breast Radiation

Regional Nodal Radiotherapy in Early-Stage Breast Cancer: Where Are We in 2016?

Emerging Biomarkers of the Future: Changing Clinical Practice for 2020

Margins in Breast-Conserving Surgery for Early Breast Cancer: How Much is Good Enough?

Nipple-Sparing Mastectomy in Patients with Germline BRCA Mutations: Is it Safe?

Defining the Prognostic and Predictive Role of PIK3CA Mutations: Sifting Through the Conflicting Data

Neu im Fachgebiet Onkologie

Adjuvante Immuntherapie verlängert Leben bei RCC

Alectinib verbessert krankheitsfreies Überleben bei ALK-positivem NSCLC

Bei Senioren mit Prostatakarzinom auf Anämie achten!

ICI-Therapie in der Schwangerschaft wird gut toleriert

Update Onkologie