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Virchows Archiv

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01.07.2014 | Review and Perspectives

Molecular classification of breast cancer

verfasst von: Darina Vuong, Peter T. Simpson, Benjamin Green, Margaret C. Cummings, Sunil R. Lakhani

Erschienen in: Virchows Archiv | Ausgabe 1/2014

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Abstract

Breast cancer is a complex, multifaceted disease encompassing a great variety of entities that show considerable variation in clinical, morphological and molecular attributes. Traditional classifications including histological assessment and clinical staging are used to guide patient management. In recent years, there has been exponential progress in molecular analysis with profound implications for our understanding of breast cancer biology and, hence, classification. There are now genome-based frameworks for the molecular categorisation of breast cancer including the development of prognostic and predictive signatures that potentially allow individualisation of treatment. Here we review the current state of the molecular classifications of in situ and invasive breast cancer including special subtypes. Future perspectives are also provided.

Rakha EA, Ellis IO (2011) Modern classification of breast cancer: should we stick with morphology or convert to molecular profile characteristics. Adv Anat Pathol 18:255–267. doi:10.1097/PAP.0b013e318220f5d1 PubMed

Lakhani SR, Ellis IO, Schnitt SJ, Tan PH, van de Vijver MJ (2012) World Health Organization classification of tumours of the breast. IARC, Lyon

Weigelt B, Horlings HM, Kreike B, Hayes MM, Hauptmann M, Wessels LF, de Jong D, Van de Vijver MJ, Van't Veer LJ, Peterse JL (2008) Refinement of breast cancer classification by molecular characterization of histological special types. J Pathol 216:141–150. doi:10.1002/path.2407 PubMed

Bloom HJ, Richardson WW (1957) Histological grading and prognosis in breast cancer; a study of 1409 cases of which 359 have been followed for 15 years. Br J Cancer 11:359–377PubMedCentralPubMed

Elston CW, Ellis IO (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 19:403–410PubMed

Ravdin PM, Siminoff LA, Davis GJ, Mercer MB, Hewlett J, Gerson N, Parker HL (2001) Computer program to assist in making decisions about adjuvant therapy for women with early breast cancer. J Clin Oncol 19:980–991PubMed

Blamey RW, Pinder SE, Ball GR, Ellis IO, Elston CW, Mitchell MJ, Haybittle JL (2007) Reading the prognosis of the individual with breast cancer. Eur J Cancer 43:1545–1547. doi:10.1016/j.ejca.2007.01.003 PubMed

Rakha EA, Reis-Filho JS, Baehner F, Dabbs DJ, Decker T, Eusebi V, Fox SB, Ichihara S, Jacquemier J, Lakhani SR, Palacios J, Richardson AL, Schnitt SJ, Schmitt FC, Tan PH, Tse GM, Badve S, Ellis IO (2010) Breast cancer prognostic classification in the molecular era: the role of histological grade. Breast Cancer Res 12:207. doi:10.1186/bcr2607 PubMedCentralPubMed

Edge SB, Byrd DR (eds) (2010) AJCC cancer staging manual. Springer, New York

10.

(2001) Biomarkers and surrogate endpoints: preferred definitions and conceptual framework. Clin Pharmacol Ther 69:89-95. doi: 10.1067/mcp.2001.113989

11.

Rakha EA, Reis-Filho JS, Ellis IO (2010) Combinatorial biomarker expression in breast cancer. Breast Cancer Res Treat 120:293–308. doi:10.1007/s10549-010-0746-x PubMed

12.

Jensen EV, Jordan VC (2003) The estrogen receptor: a model for molecular medicine. Clin Cancer Res 9:1980–1989PubMed

13.

Anderson WF, Chatterjee N, Ershler WB, Brawley OW (2002) Estrogen receptor breast cancer phenotypes in the Surveillance, Epidemiology, and End Results database. Breast Cancer Res Treat 76:27–36PubMed

14.

Mosselman S, Polman J, Dijkema R (1996) ER beta: identification and characterization of a novel human estrogen receptor. FEBS Lett 392:49–53PubMed

15.

Horwitz KB, Koseki Y, McGuire WL (1978) Estrogen control of progesterone receptor in human breast cancer: role of estradiol and antiestrogen. Endocrinology 103:1742–1751PubMed

16.

Horwitz KB, McGuire WL (1975) Specific progesterone receptors in human breast cancer. Steroids 25:497–505PubMed

17.

Lanari C, Lamb CA, Fabris VT, Helguero LA, Soldati R, Bottino MC, Giulianelli S, Cerliani JP, Wargon V, Molinolo A (2009) The MPA mouse breast cancer model: evidence for a role of progesterone receptors in breast cancer. Endocr Relat Cancer 16:333–350. doi:10.1677/erc-08-0244 PubMed

18.

Arpino G, Weiss H, Lee AV, Schiff R, De Placido S, Osborne CK, Elledge RM (2005) Estrogen receptor-positive, progesterone receptor-negative breast cancer: association with growth factor receptor expression and tamoxifen resistance. J Natl Cancer Inst 97:1254–1261. doi:10.1093/jnci/dji249 PubMed

19.

Bardou VJ, Arpino G, Elledge RM, Osborne CK, Clark GM (2003) Progesterone receptor status significantly improves outcome prediction over estrogen receptor status alone for adjuvant endocrine therapy in two large breast cancer databases. J Clin Oncol 21:1973–1979. doi:10.1200/jco.2003.09.099 PubMed

20.

Ferno M, Stal O, Baldetorp B, Hatschek T, Kallstrom AC, Malmstrom P, Nordenskjold B, Ryden S (2000) Results of two or five years of adjuvant tamoxifen correlated to steroid receptor and S-phase levels. South Sweden Breast Cancer Group, and South-East Sweden Breast Cancer Group. Breast Cancer Res Treat 59:69–76PubMed

21.

Rakha EA, El-Sayed ME, Green AR, Paish EC, Powe DG, Gee J, Nicholson RI, Lee AH, Robertson JF, Ellis IO (2007) Biologic and clinical characteristics of breast cancer with single hormone receptor positive phenotype. J Clin Oncol 25:4772–4778. doi:10.1200/JCO.2007.12.2747 PubMed

22.

Dandachi N, Dietze O, Hauser-Kronberger C (2002) Chromogenic in situ hybridization: a novel approach to a practical and sensitive method for the detection of HER2 oncogene in archival human breast carcinoma. Lab Invest 82:1007–1014PubMed

23.

Slamon DJ, Clark GM, Wong SG, Levin WJ, Ullrich A, McGuire WL (1987) Human breast cancer: correlation of relapse and survival with amplification of the HER-2/neu oncogene. Science 235:177–182PubMed

24.

Valentin MD, da Silva SD, Privat M, Alaoui-Jamali M, Bignon YJ (2012) Molecular insights on basal-like breast cancer. Breast Cancer Res Treat 134:21–30. doi:10.1007/s10549-011-1934-z PubMed

25.

de Azambuja E, Cardoso F, de Castro G Jr, Colozza M, Mano MS, Durbecq V, Sotiriou C, Larsimont D, Piccart-Gebhart MJ, Paesmans M (2007) Ki-67 as prognostic marker in early breast cancer: a meta-analysis of published studies involving 12,155 patients. Br J Cancer 96:1504–1513. doi:10.1038/sj.bjc.6603756 PubMedCentralPubMed

26.

Albertson DG, Pinkel D (2003) Genomic microarrays in human genetic disease and cancer. Hum Mol Genet 12 Spec No 2:R145-152. doi: 10.1093/hmg/ddg261

27.

Reis-Filho JS, Simpson PT, Gale T, Lakhani SR (2005) The molecular genetics of breast cancer: the contribution of comparative genomic hybridization. Pathol Res Pract 201:713–725. doi:10.1016/j.prp.2005.05.013 PubMed

28.

Lopez-Garcia MA, Geyer FC, Lacroix-Triki M, Marchio C, Reis-Filho JS (2010) Breast cancer precursors revisited: molecular features and progression pathways. Histopathology 57:171–192. doi:10.1111/j.1365-2559.2010.03568.x PubMed

29.

Simpson PT, Reis-Filho JS, Gale T, Lakhani SR (2005) Molecular evolution of breast cancer. J Pathol 205:248–254. doi:10.1002/path.1691 PubMed

30.

Simpson PT, Reis-Filho JS, Lambros MB, Jones C, Steele D, Mackay A, Iravani M, Fenwick K, Dexter T, Jones A, Reid L, Da Silva L, Shin SJ, Hardisson D, Ashworth A, Schmitt FC, Palacios J, Lakhani SR (2008) Molecular profiling pleomorphic lobular carcinomas of the breast: evidence for a common molecular genetic pathway with classic lobular carcinomas. J Pathol 215:231–244. doi:10.1002/path.2358 PubMed

31.

Perou CM, Sorlie T, Eisen MB, van de Rijn M, Jeffrey SS, Rees CA, Pollack JR, Ross DT, Johnsen H, Akslen LA, Fluge O, Pergamenschikov A, Williams C, Zhu SX, Lonning PE, Borresen-Dale AL, Brown PO, Botstein D (2000) Molecular portraits of human breast tumours. Nature 406:747–752. doi:10.1038/35021093 PubMed

32.

Cheang MC, Chia SK, Voduc D, Gao D, Leung S, Snider J, Watson M, Davies S, Bernard PS, Parker JS, Perou CM, Ellis MJ, Nielsen TO (2009) Ki67 index, HER2 status, and prognosis of patients with luminal B breast cancer. J Natl Cancer Inst 101:736–750. doi:10.1093/jnci/djp082 PubMedCentralPubMed

33.

Sorlie T, Perou CM, Tibshirani R, Aas T, Geisler S, Johnsen H, Hastie T, Eisen MB, van de Rijn M, Jeffrey SS, Thorsen T, Quist H, Matese JC, Brown PO, Botstein D, Lonning PE, Borresen-Dale AL (2001) Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications. Proc Natl Acad Sci U S A 98:10869–10874. doi:10.1073/pnas.191367098 PubMedCentralPubMed

34.

Chin K, DeVries S, Fridlyand J, Spellman PT, Roydasgupta R, Kuo WL, Lapuk A, Neve RM, Qian Z, Ryder T, Chen F, Feiler H, Tokuyasu T, Kingsley C, Dairkee S, Meng Z, Chew K, Pinkel D, Jain A, Ljung BM, Esserman L, Albertson DG, Waldman FM, Gray JW (2006) Genomic and transcriptional aberrations linked to breast cancer pathophysiologies. Cancer Cell 10:529–541. doi:10.1016/j.ccr.2006.10.009 PubMed

35.

Gatza ML, Lucas JE, Barry WT, Kim JW, Wang Q, Crawford MD, Datto MB, Kelley M, Mathey-Prevot B, Potti A, Nevins JR (2010) A pathway-based classification of human breast cancer. Proc Natl Acad Sci U S A 107:6994–6999. doi:10.1073/pnas.0912708107 PubMedCentralPubMed

36.

Sorlie T, Tibshirani R, Parker J, Hastie T, Marron JS, Nobel A, Deng S, Johnsen H, Pesich R, Geisler S, Demeter J, Perou CM, Lonning PE, Brown PO, Borresen-Dale AL, Botstein D (2003) Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci U S A 100:8418–8423. doi:10.1073/pnas.0932692100 PubMedCentralPubMed

37.

Hu Z, Fan C, Oh DS, Marron JS, He X, Qaqish BF, Livasy C, Carey LA, Reynolds E, Dressler L, Nobel A, Parker J, Ewend MG, Sawyer LR, Wu J, Liu Y, Nanda R, Tretiakova M, Ruiz Orrico A, Dreher D, Palazzo JP, Perreard L, Nelson E, Mone M, Hansen H, Mullins M, Quackenbush JF, Ellis MJ, Olopade OI, Bernard PS, Perou CM (2006) The molecular portraits of breast tumors are conserved across microarray platforms. BMC Genomics 7:96. doi:10.1186/1471-2164-7-96 PubMedCentralPubMed

38.

Pusztai L, Mazouni C, Anderson K, Wu Y, Symmans WF (2006) Molecular classification of breast cancer: limitations and potential. Oncologist 11:868–877. doi:10.1634/theoncologist.11-8-868 PubMed

39.

Weigelt B, Mackay A, A'Hern R, Natrajan R, Tan DS, Dowsett M, Ashworth A, Reis-Filho JS (2010) Breast cancer molecular profiling with single sample predictors: a retrospective analysis. Lancet Oncol 11:339–349. doi:10.1016/s1470-2045(10)70008-5 PubMed

40.

Harrell JC, Prat A, Parker JS, Fan C, He X, Carey L, Anders C, Ewend M, Perou CM (2012) Genomic analysis identifies unique signatures predictive of brain, lung, and liver relapse. Breast Cancer Res Treat 132:523–535. doi:10.1007/s10549-011-1619-7 PubMedCentralPubMed

41.

Kennecke H, Yerushalmi R, Woods R, Cheang MC, Voduc D, Speers CH, Nielsen TO, Gelmon K (2010) Metastatic behavior of breast cancer subtypes. J Clin Oncol 28:3271–3277. doi:10.1200/JCO.2009.25.9820 PubMed

42.

Fulford LG, Easton DF, Reis-Filho JS, Sofronis A, Gillett CE, Lakhani SR, Hanby A (2006) Specific morphological features predictive for the basal phenotype in grade 3 invasive ductal carcinoma of breast. Histopathology 49:22–34. doi:10.1111/j.1365-2559.2006.02453.x PubMed

43.

Livasy CA, Karaca G, Nanda R, Tretiakova MS, Olopade OI, Moore DT, Perou CM (2006) Phenotypic evaluation of the basal-like subtype of invasive breast carcinoma. Mod Pathol 19:264–271. doi:10.1038/modpathol.3800528 PubMed

44.

Banerjee S, Reis-Filho JS, Ashley S, Steele D, Ashworth A, Lakhani SR, Smith IE (2006) Basal-like breast carcinomas: clinical outcome and response to chemotherapy. J Clin Pathol 59:729–735. doi:10.1136/jcp.2005.033043 PubMedCentralPubMed

45.

Shah SP, Roth A, Goya R, Oloumi A, Ha G, Zhao Y, Turashvili G, Ding J, Tse K, Haffari G, Bashashati A, Prentice LM, Khattra J, Burleigh A, Yap D, Bernard V, McPherson A, Shumansky K, Crisan A, Giuliany R, Heravi-Moussavi A, Rosner J, Lai D, Birol I, Varhol R, Tam A, Dhalla N, Zeng T, Ma K, Chan SK, Griffith M, Moradian A, Cheng SW, Morin GB, Watson P, Gelmon K, Chia S, Chin SF, Curtis C, Rueda OM, Pharoah PD, Damaraju S, Mackey J, Hoon K, Harkins T, Tadigotla V, Sigaroudinia M, Gascard P, Tlsty T, Costello JF, Meyer IM, Eaves CJ, Wasserman WW, Jones S, Huntsman D, Hirst M, Caldas C, Marra MA, Aparicio S (2012) The clonal and mutational evolution spectrum of primary triple-negative breast cancers. Nature 486:395–399. doi:10.1038/nature10933 PubMed

46.

Fulford LG, Reis-Filho JS, Ryder K, Jones C, Gillett CE, Hanby A, Easton D, Lakhani SR (2007) Basal-like grade III invasive ductal carcinoma of the breast: patterns of metastasis and long-term survival. Breast Cancer Res 9:R4. doi:10.1186/bcr1636 PubMedCentralPubMed

47.

Badve S, Dabbs DJ, Schnitt SJ, Baehner FL, Decker T, Eusebi V, Fox SB, Ichihara S, Jacquemier J, Lakhani SR, Palacios J, Rakha EA, Richardson AL, Schmitt FC, Tan PH, Tse GM, Weigelt B, Ellis IO, Reis-Filho JS (2011) Basal-like and triple-negative breast cancers: a critical review with an emphasis on the implications for pathologists and oncologists. Mod Pathol 24:157–167. doi:10.1038/modpathol.2010.200 PubMed

48.

Lehmann BD, Bauer JA, Chen X, Sanders ME, Chakravarthy AB, Shyr Y, Pietenpol JA (2011) Identification of human triple-negative breast cancer subtypes and preclinical models for selection of targeted therapies. J Clin Invest 121:2750–2767. doi:10.1172/jci45014 PubMedCentralPubMed

49.

Masuda H, Baggerly KA, Wang Y, Zhang Y, Gonzalez-Angulo AM, Meric-Bernstam F, Valero V, Lehmann BD, Pietenpol JA, Hortobagyi GN, Symmans WF, Ueno NT (2013) Differential response to neoadjuvant chemotherapy among 7 triple-negative breast cancer molecular subtypes. Clin Cancer Res 19:5533–5540. doi:10.1158/1078-0432.ccr-13-0799 PubMed

50.

Parker JS, Mullins M, Cheang MC, Leung S, Voduc D, Vickery T, Davies S, Fauron C, He X, Hu Z, Quackenbush JF, Stijleman IJ, Palazzo J, Marron JS, Nobel AB, Mardis E, Nielsen TO, Ellis MJ, Perou CM, Bernard PS (2009) Supervised risk predictor of breast cancer based on intrinsic subtypes. J Clin Oncol 27:1160–1167. doi:10.1200/jco.2008.18.1370 PubMedCentralPubMed

51.

Rouzier R, Perou CM, Symmans WF, Ibrahim N, Cristofanilli M, Anderson K, Hess KR, Stec J, Ayers M, Wagner P, Morandi P, Fan C, Rabiul I, Ross JS, Hortobagyi GN, Pusztai L (2005) Breast cancer molecular subtypes respond differently to preoperative chemotherapy. Clin Cancer Res 11:5678–5685. doi:10.1158/1078-0432.ccr-04-2421 PubMed

52.

Staaf J, Ringner M, Vallon-Christersson J, Jonsson G, Bendahl PO, Holm K, Arason A, Gunnarsson H, Hegardt C, Agnarsson BA, Luts L, Grabau D, Ferno M, Malmstrom PO, Johannsson OT, Loman N, Barkardottir RB, Borg A (2010) Identification of subtypes in human epidermal growth factor receptor 2–positive breast cancer reveals a gene signature prognostic of outcome. J Clin Oncol 28:1813–1820. doi:10.1200/jco.2009.22.8775 PubMed

53.

Prat A, Parker JS, Karginova O, Fan C, Livasy C, Herschkowitz JI, He X, Perou CM (2010) Phenotypic and molecular characterization of the claudin-low intrinsic subtype of breast cancer. Breast Cancer Res 12:R68. doi:10.1186/bcr2635 PubMedCentralPubMed

54.

Farmer P, Bonnefoi H, Becette V, Tubiana-Hulin M, Fumoleau P, Larsimont D, Macgrogan G, Bergh J, Cameron D, Goldstein D, Duss S, Nicoulaz AL, Brisken C, Fiche M, Delorenzi M, Iggo R (2005) Identification of molecular apocrine breast tumours by microarray analysis. Oncogene 24:4660–4671. doi:10.1038/sj.onc.1208561 PubMed

55.

Guedj M, Marisa L, de Reynies A, Orsetti B, Schiappa R, Bibeau F, MacGrogan G, Lerebours F, Finetti P, Longy M, Bertheau P, Bertrand F, Bonnet F, Martin AL, Feugeas JP, Bieche I, Lehmann-Che J, Lidereau R, Birnbaum D, Bertucci F, de The H, Theillet C (2012) A refined molecular taxonomy of breast cancer. Oncogene 31:1196–1206. doi:10.1038/onc.2011.301 PubMedCentralPubMed

56.

Weigelt B, Geyer FC, Reis-Filho JS (2010) Histological types of breast cancer: how special are they? Mol Oncol 4:192–208. doi:10.1016/j.molonc.2010.04.004 PubMed

57.

Cuzick J, Dowsett M, Pineda S, Wale C, Salter J, Quinn E, Zabaglo L, Mallon E, Green AR, Ellis IO, Howell A, Buzdar AU, Forbes JF (2011) 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 29:4273–4278. doi:10.1200/JCO.2010.31.2835 PubMed

58.

Dowsett M, Sestak I, Lopez-Knowles E, Sidhu K, Dunbier AK, Cowens JW, Ferree S, Storhoff J, Schaper C, Cuzick J (2013) Comparison of PAM50 risk of recurrence score with oncotype DX and IHC4 for predicting risk of distant recurrence after endocrine therapy. J Clin Oncol 31:2783–2790. doi:10.1200/jco.2012.46.1558 PubMed

59.

Nielsen TO, Hsu FD, Jensen K, Cheang M, Karaca G, Hu Z, Hernandez-Boussard T, Livasy C, Cowan D, Dressler L, Akslen LA, Ragaz J, Gown AM, Gilks CB, van de Rijn M, Perou CM (2004) Immunohistochemical and clinical characterization of the basal-like subtype of invasive breast carcinoma. Clin Cancer Res 10:5367–5374. doi:10.1158/1078-0432.CCR-04-0220 PubMed

60.

Blows FM, Driver KE, Schmidt MK, Broeks A, van Leeuwen FE, Wesseling J, Cheang MC, Gelmon K, Nielsen TO, Blomqvist C, Heikkila P, Heikkinen T, Nevanlinna H, Akslen LA, Begin LR, Foulkes WD, Couch FJ, Wang X, Cafourek V, Olson JE, Baglietto L, Giles GG, Severi G, McLean CA, Southey MC, Rakha E, Green AR, Ellis IO, Sherman ME, Lissowska J, Anderson WF, Cox A, Cross SS, Reed MW, Provenzano E, Dawson SJ, Dunning AM, Humphreys M, Easton DF, Garcia-Closas M, Caldas C, Pharoah PD, Huntsman D (2010) Subtyping of breast cancer by immunohistochemistry to investigate a relationship between subtype and short and long term survival: a collaborative analysis of data for 10,159 cases from 12 studies. PLoS Med 7:e1000279. doi:10.1371/journal.pmed.1000279 PubMedCentralPubMed

61.

Green AR, Powe DG, Rakha EA, Soria D, Lemetre C, Nolan CC, Barros FF, Macmillan RD, Garibaldi JM, Ball GR, Ellis IO (2013) Identification of key clinical phenotypes of breast cancer using a reduced panel of protein biomarkers. Br J Cancer 109:1886–1894. doi:10.1038/bjc.2013.528 PubMed

62.

(2012) Comprehensive molecular portraits of human breast tumours. Nature 490:61-70. doi: 10.1038/nature11412

63.

Stephens PJ, McBride DJ, Lin ML, Varela I, Pleasance ED, Simpson JT, Stebbings LA, Leroy C, Edkins S, Mudie LJ, Greenman CD, Jia M, Latimer C, Teague JW, Lau KW, Burton J, Quail MA, Swerdlow H, Churcher C, Natrajan R, Sieuwerts AM, Martens JW, Silver DP, Langerod A, Russnes HE, Foekens JA, Reis-Filho JS, van’t Veer L, Richardson AL, Borresen-Dale AL, Campbell PJ, Futreal PA, Stratton MR (2009) Complex landscapes of somatic rearrangement in human breast cancer genomes. Nature 462:1005–1010. doi:10.1038/nature08645 PubMedCentralPubMed

64.

Stephens PJ, Tarpey PS, Davies H, Van Loo P, Greenman C, Wedge DC, Nik-Zainal S, Martin S, Varela I, Bignell GR, Yates LR, Papaemmanuil E, Beare D, Butler A, Cheverton A, Gamble J, Hinton J, Jia M, Jayakumar A, Jones D, Latimer C, Lau KW, McLaren S, McBride DJ, Menzies A, Mudie L, Raine K, Rad R, Chapman MS, Teague J, Easton D, Langerod A, Lee MT, Shen CY, Tee BT, Huimin BW, Broeks A, Vargas AC, Turashvili G, Martens J, Fatima A, Miron P, Chin SF, Thomas G, Boyault S, Mariani O, Lakhani SR, van de Vijver M, van’t Veer L, Foekens J, Desmedt C, Sotiriou C, Tutt A, Caldas C, Reis-Filho JS, Aparicio SA, Salomon AV, Borresen-Dale AL, Richardson AL, Campbell PJ, Futreal PA, Stratton MR (2012) The landscape of cancer genes and mutational processes in breast cancer. Nature 486:400–404. doi:10.1038/nature11017 PubMedCentralPubMed

65.

Curtis C, Shah SP, Chin SF, Turashvili G, Rueda OM, Dunning MJ, Speed D, Lynch AG, Samarajiwa S, Yuan Y, Graf S, Ha G, Haffari G, Bashashati A, Russell R, McKinney S, Langerod A, Green A, Provenzano E, Wishart G, Pinder S, Watson P, Markowetz F, Murphy L, Ellis I, Purushotham A, Borresen-Dale AL, Brenton JD, Tavare S, Caldas C, Aparicio S (2012) The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature 486:346–352. doi:10.1038/nature10983 PubMedCentralPubMed

66.

Ellis MJ, Ding L, Shen D, Luo J, Suman VJ, Wallis JW, Van Tine BA, Hoog J, Goiffon RJ, Goldstein TC, Ng S, Lin L, Crowder R, Snider J, Ballman K, Weber J, Chen K, Koboldt DC, Kandoth C, Schierding WS, McMichael JF, Miller CA, Lu C, Harris CC, McLellan MD, Wendl MC, DeSchryver K, Allred DC, Esserman L, Unzeitig G, Margenthaler J, Babiera GV, Marcom PK, Guenther JM, Leitch M, Hunt K, Olson J, Tao Y, Maher CA, Fulton LL, Fulton RS, Harrison M, Oberkfell B, Du F, Demeter R, Vickery TL, Elhammali A, Piwnica-Worms H, McDonald S, Watson M, Dooling DJ, Ota D, Chang LW, Bose R, Ley TJ, Piwnica-Worms D, Stuart JM, Wilson RK, Mardis ER (2012) Whole-genome analysis informs breast cancer response to aromatase inhibition. Nature 486:353–360. doi:10.1038/nature11143 PubMedCentralPubMed

67.

Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SA, Behjati S, Biankin AV, Bignell GR, Bolli N, Borg A, Borresen-Dale AL, Boyault S, Burkhardt B, Butler AP, Caldas C, Davies HR, Desmedt C, Eils R, Eyfjord JE, Foekens JA, Greaves M, Hosoda F, Hutter B, Ilicic T, Imbeaud S, Imielinski M, Jager N, Jones DT, Jones D, Knappskog S, Kool M, Lakhani SR, Lopez-Otin C, Martin S, Munshi NC, Nakamura H, Northcott PA, Pajic M, Papaemmanuil E, Paradiso A, Pearson JV, Puente XS, Raine K, Ramakrishna M, Richardson AL, Richter J, Rosenstiel P, Schlesner M, Schumacher TN, Span PN, Teague JW, Totoki Y, Tutt AN, Valdes-Mas R, van Buuren MM, van’t Veer L, Vincent-Salomon A, Waddell N, Yates LR, Zucman-Rossi J, Futreal PA, McDermott U, Lichter P, Meyerson M, Grimmond SM, Siebert R, Campo E, Shibata T, Pfister SM, Campbell PJ, Stratton MR (2013) Signatures of mutational processes in human cancer. Nature 500:415–421. doi:10.1038/nature12477 PubMedCentralPubMed

68.

Roberts SA, Lawrence MS, Klimczak LJ, Grimm SA, Fargo D, Stojanov P, Kiezun A, Kryukov GV, Carter SL, Saksena G, Harris S, Shah RR, Resnick MA, Getz G, Gordenin DA (2013) An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers. Nat Genet 45:970–976. doi:10.1038/ng.2702 PubMedCentralPubMed

69.

Alexandrov LB, Nik-Zainal S, Wedge DC, Campbell PJ, Stratton MR (2013) Deciphering signatures of mutational processes operative in human cancer. Cell Rep 3:246–259. doi:10.1016/j.celrep.2012.12.008 PubMedCentralPubMed

70.

Nik-Zainal S, Alexandrov LB, Wedge DC, Van Loo P, Greenman CD, Raine K, Jones D, Hinton J, Marshall J, Stebbings LA, Menzies A, Martin S, Leung K, Chen L, Leroy C, Ramakrishna M, Rance R, Lau KW, Mudie LJ, Varela I, McBride DJ, Bignell GR, Cooke SL, Shlien A, Gamble J, Whitmore I, Maddison M, Tarpey PS, Davies HR, Papaemmanuil E, Stephens PJ, McLaren S, Butler AP, Teague JW, Jonsson G, Garber JE, Silver D, Miron P, Fatima A, Boyault S, Langerod A, Tutt A, Martens JW, Aparicio SA, Borg A, Salomon AV, Thomas G, Borresen-Dale AL, Richardson AL, Neuberger MS, Futreal PA, Campbell PJ, Stratton MR (2012) Mutational processes molding the genomes of 21 breast cancers. Cell 149:979–993. doi:10.1016/j.cell.2012.04.024 PubMedCentralPubMed

71.

Thompson AM, Jordan LB, Quinlan P, Anderson E, Skene A, Dewar JA, Purdie CA, Breast Recurrence in Tissues Study G (2010) Prospective comparison of switches in biomarker status between primary and recurrent breast cancer: the Breast Recurrence In Tissues Study (BRITS). Breast Cancer Res 12:R92. doi:10.1186/bcr2771 PubMedCentralPubMed

72.

Gruel N, Lucchesi C, Raynal V, Rodrigues MJ, Pierron G, Goudefroye R, Cottu P, Reyal F, Sastre-Garau X, Fourquet A, Delattre O, Vincent-Salomon A (2010) Lobular invasive carcinoma of the breast is a molecular entity distinct from luminal invasive ductal carcinoma. Eur J Cancer 46:2399–2407. doi:10.1016/j.ejca.2010.05.013 PubMed

73.

Zhang Q, Gu J, Li L, Liu J, Luo B, Cheung HW, Boehm JS, Ni M, Geisen C, Root DE, Polyak K, Brown M, Richardson AL, Hahn WC, Kaelin WG Jr, Bommi-Reddy A (2009) Control of cyclin D1 and breast tumorigenesis by the EglN2 prolyl hydroxylase. Cancer Cell 16:413–424. doi:10.1016/j.ccr.2009.09.029 PubMedCentralPubMed

74.

Weigelt B, Geyer FC, Natrajan R, Lopez-Garcia MA, Ahmad AS, Savage K, Kreike B, Reis-Filho JS (2010) The molecular underpinning of lobular histological growth pattern: a genome-wide transcriptomic analysis of invasive lobular carcinomas and grade- and molecular subtype-matched invasive ductal carcinomas of no special type. J Pathol 220:45–57. doi:10.1002/path.2629 PubMed

75.

Rakha EA, van Deurzen CH, Paish EC, Macmillan RD, Ellis IO, Lee AH (2013) Pleomorphic lobular carcinoma of the breast: is it a prognostically significant pathological subtype independent of histological grade? Mod Pathol 26:496–501. doi:10.1038/modpathol.2012.197 PubMed

76.

Marchio C, Iravani M, Natrajan R, Lambros MB, Geyer FC, Savage K, Parry S, Tamber N, Fenwick K, Mackay A, Schmitt FC, Bussolati G, Ellis I, Ashworth A, Sapino A, Reis-Filho JS (2009) Mixed micropapillary-ductal carcinomas of the breast: a genomic and immunohistochemical analysis of morphologically distinct components. J Pathol 218:301–315. doi:10.1002/path.2572 PubMed

77.

Thor AD, Eng C, Devries S, Paterakos M, Watkin WG, Edgerton S, Moore DH 2nd, Etzell J, Waldman FM (2002) Invasive micropapillary carcinoma of the breast is associated with chromosome 8 abnormalities detected by comparative genomic hybridization. Hum Pathol 33:628–631PubMed

78.

Tse GM, Ma TK, Chu WC, Lam WW, Poon CS, Chan WC (2004) Neuroendocrine differentiation in pure type mammary mucinous carcinoma is associated with favorable histologic and immunohistochemical parameters. Mod Pathol 17:568–572. doi:10.1038/modpathol.3800092 PubMed

79.

Lae M, Freneaux P, Sastre-Garau X, Chouchane O, Sigal-Zafrani B, Vincent-Salomon A (2009) Secretory breast carcinomas with ETV6-NTRK3 fusion gene belong to the basal-like carcinoma spectrum. Mod Pathol 22:291–298. doi:10.1038/modpathol.2008.184 PubMed

80.

Lambros MB, Tan DS, Jones RL, Vatcheva R, Savage K, Tamber N, Fenwick K, Mackay A, Ashworth A, Reis-Filho JS (2009) Genomic profile of a secretory breast cancer with an ETV6-NTRK3 duplication. J Clin Pathol 62:604–612. doi:10.1136/jcp.2008.059675 PubMed

81.

Tognon C, Knezevich SR, Huntsman D, Roskelley CD, Melnyk N, Mathers JA, Becker L, Carneiro F, MacPherson N, Horsman D, Poremba C, Sorensen PH (2002) Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma. Cancer Cell 2:367–376PubMed

82.

Persson M, Andren Y, Mark J, Horlings HM, Persson F, Stenman G (2009) Recurrent fusion of MYB and NFIB transcription factor genes in carcinomas of the breast and head and neck. Proc Natl Acad Sci U S A 106:18740–18744. doi:10.1073/pnas.0909114106 PubMedCentralPubMed

83.

Vincent-Salomon A, Lucchesi C, Gruel N, Raynal V, Pierron G, Goudefroye R, Reyal F, Radvanyi F, Salmon R, Thiery JP, Sastre-Garau X, Sigal-Zafrani B, Fourquet A, Delattre O (2008) Integrated genomic and transcriptomic analysis of ductal carcinoma in situ of the breast. Clin Cancer Res 14:1956–1965. doi:10.1158/1078-0432.ccr-07-1465 PubMed

84.

Allred DC, Wu Y, Mao S, Nagtegaal ID, Lee S, Perou CM, Mohsin SK, O'Connell P, Tsimelzon A, Medina D (2008) Ductal carcinoma in situ and the emergence of diversity during breast cancer evolution. Clin Cancer Res 14:370–378. doi:10.1158/1078-0432.ccr-07-1127 PubMed

85.

Hicks J, Krasnitz A, Lakshmi B, Navin NE, Riggs M, Leibu E, Esposito D, Alexander J, Troge J, Grubor V, Yoon S, Wigler M, Ye K, Borresen-Dale AL, Naume B, Schlicting E, Norton L, Hagerstrom T, Skoog L, Auer G, Maner S, Lundin P, Zetterberg A (2006) Novel patterns of genome rearrangement and their association with survival in breast cancer. Genome Res 16:1465–1479. doi:10.1101/gr.5460106 PubMedCentralPubMed

86.

O'Connell P, Pekkel V, Fuqua SA, Osborne CK, Clark GM, Allred DC (1998) Analysis of loss of heterozygosity in 399 premalignant breast lesions at 15 genetic loci. J Natl Cancer Inst 90:697–703PubMed

87.

Hwang ES, DeVries S, Chew KL, Moore DH 2nd, Kerlikowske K, Thor A, Ljung BM, Waldman FM (2004) Patterns of chromosomal alterations in breast ductal carcinoma in situ. Clin Cancer Res 10:5160–5167. doi:10.1158/1078-0432.ccr-04-0165 PubMed

88.

Buerger H, Otterbach F, Simon R, Poremba C, Diallo R, Decker T, Riethdorf L, Brinkschmidt C, Dockhorn-Dworniczak B, Boecker W (1999) Comparative genomic hybridization of ductal carcinoma in situ of the breast-evidence of multiple genetic pathways. J Pathol 187:396–402. doi:10.1002/(sici)1096-9896(199903)187:4<396::aid-path286>3.0.co;2-l PubMed

89.

Kauraniemi P, Kallioniemi A (2006) Activation of multiple cancer-associated genes at the ERBB2 amplicon in breast cancer. Endocr Relat Cancer 13:39–49. doi:10.1677/erc.1.01147 PubMed

90.

Kauraniemi P, Kuukasjarvi T, Sauter G, Kallioniemi A (2003) Amplification of a 280-kilobase core region at the ERBB2 locus leads to activation of two hypothetical proteins in breast cancer. Am J Pathol 163:1979–1984. doi:10.1016/s0002-9440(10)63556-0 PubMedCentralPubMed

91.

Tsikitis VL, Chung MA (2006) Biology of ductal carcinoma in situ classification based on biologic potential. Am J Clin Oncol 29:305–310. doi:10.1097/01.coc.0000198740.33617.2f PubMed

92.

Zhou W, Jirstrom K, Amini RM, Fjallskog ML, Sollie T, Lindman H, Sorlie T, Blomqvist C, Warnberg F (2013) Molecular subtypes in ductal carcinoma in situ of the breast and their relation to prognosis: a population-based cohort study. BMC Cancer 13:512. doi:10.1186/1471-2407-13-512 PubMed

93.

Gauthier ML, Berman HK, Miller C, Kozakeiwicz K, Chew K, Moore D, Rabban J, Chen YY, Kerlikowske K, Tlsty TD (2007) Abrogated response to cellular stress identifies DCIS associated with subsequent tumor events and defines basal-like breast tumors. Cancer Cell 12:479–491. doi:10.1016/j.ccr.2007.10.017 PubMedCentralPubMed

94.

Kerlikowske K, Molinaro AM, Gauthier ML, Berman HK, Waldman F, Bennington J, Sanchez H, Jimenez C, Stewart K, Chew K, Ljung BM, Tlsty TD (2010) Biomarker expression and risk of subsequent tumors after initial ductal carcinoma in situ diagnosis. J Natl Cancer Inst 102:627–637. doi:10.1093/jnci/djq101 PubMedCentralPubMed

95.

Radisky DC, Santisteban M, Berman HK, Gauthier ML, Frost MH, Reynolds CA, Vierkant RA, Pankratz VS, Visscher DW, Tlsty TD, Hartmann LC (2011) p16(INK4a) expression and breast cancer risk in women with atypical hyperplasia. Cancer Prev Res (Phila) 4:1953–1960. doi:10.1158/1940-6207.capr-11-0282

96.

Heselmeyer-Haddad K, Berroa Garcia LY, Bradley A, Ortiz-Melendez C, Lee WJ, Christensen R, Prindiville SA, Calzone KA, Soballe PW, Hu Y, Chowdhury SA, Schwartz R, Schaffer AA, Ried T (2012) Single-cell genetic analysis of ductal carcinoma in situ and invasive breast cancer reveals enormous tumor heterogeneity yet conserved genomic imbalances and gain of MYC during progression. Am J Pathol 181:1807–1822. doi:10.1016/j.ajpath.2012.07.012 PubMedCentralPubMed

97.

Sotiriou C, Pusztai L (2009) Gene-expression signatures in breast cancer. N Engl J Med 360:790–800. doi:10.1056/NEJMra0801289 PubMed

98.

Weigelt B, Baehner FL, Reis-Filho JS (2010) The contribution of gene expression profiling to breast cancer classification, prognostication and prediction: a retrospective of the last decade. J Pathol 220:263–280. doi:10.1002/path.2648 PubMed

99.

Reis-Filho JS, Pusztai L (2011) Gene expression profiling in breast cancer: classification, prognostication, and prediction. Lancet 378:1812–1823. doi:10.1016/s0140-6736(11)61539-0 PubMed

100.

van de Vijver MJ (2014) Molecular tests as prognostic factors in breast cancer. Virchows Arch 464:283–291. doi:10.1007/s00428-014-1539-0 PubMed

101.

Andre F, Bachelot T, Commo F, Campone M, Arnedos M, Dieras V, Lacroix-Triki M, Lacroix L, Cohen P, Gentien D, Adelaide J, Dalenc F, Goncalves A, Levy C, Ferrero JM, Bonneterre J, Lefeuvre C, Jimenez M, Filleron T, Bonnefoi H (2014) Comparative genomic hybridisation array and DNA sequencing to direct treatment of metastatic breast cancer: a multicentre, prospective trial (SAFIR01/UNICANCER). Lancet Oncol 15:267–274. doi:10.1016/s1470-2045(13)70611-9 PubMed

102.

Frampton GM, Fichtenholtz A, Otto GA, Wang K, Downing SR, He J, Schnall-Levin M, White J, Sanford EM, An P, Sun J, Juhn F, Brennan K, Iwanik K, Maillet A, Buell J, White E, Zhao M, Balasubramanian S, Terzic S, Richards T, Banning V, Garcia L, Mahoney K, Zwirko Z, Donahue A, Beltran H, Mosquera JM, Rubin MA, Dogan S, Hedvat CV, Berger MF, Pusztai L, Lechner M, Boshoff C, Jarosz M, Vietz C, Parker A, Miller VA, Ross JS, Curran J, Cronin MT, Stephens PJ, Lipson D, Yelensky R (2013) Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat Biotechnol 31:1023–1031. doi:10.1038/nbt.2696 PubMed

103.

Vasan N, Yelensky R, Wang K, Moulder S, Dzimitrowicz H, Avritscher R, Wang B, Wu Y, Cronin MT, Palmer G, Symmans WF, Miller VA, Stephens P, Pusztai L (2014) A targeted next-generation sequencing assay detects a high frequency of therapeutically targetable alterations in primary and metastatic breast cancers: implications for clinical practice. Oncologist. doi:10.1634/theoncologist.2013-0377 PubMed

104.

Khatcheressian JL, Hurley P, Bantug E, Esserman LJ, Grunfeld E, Halberg F, Hantel A, Henry NL, Muss HB, Smith TJ, Vogel VG, Wolff AC, Somerfield MR, Davidson NE (2013) Breast cancer follow-up and management after primary treatment: American Society of Clinical Oncology clinical practice guideline update. J Clin Oncol 31:961–965. doi:10.1200/jco.2012.45.9859 PubMed

105.

Leon SA, Shapiro B, Sklaroff DM, Yaros MJ (1977) Free DNA in the serum of cancer patients and the effect of therapy. Cancer Res 37:646–650PubMed

106.

Bidard FC, Weigelt B, Reis-Filho JS (2013) Going with the flow: from circulating tumor cells to DNA. Sci Transl Med 5:207–214. doi:10.1126/scitranslmed.3006305

107.

Schwarzenbach H (2013) Circulating nucleic acids as biomarkers in breast cancer. Breast Cancer Res 15:211. doi:10.1186/bcr3446 PubMedCentralPubMed

108.

Leary RJ, Kinde I, Diehl F, Schmidt K, Clouser C, Duncan C, Antipova A, Lee C, McKernan K, De La Vega FM, Kinzler KW, Vogelstein B, Diaz LA, Jr., Velculescu VE (2010) Development of personalized tumor biomarkers using massively parallel sequencing. Sci Transl Med 2:20ra14. doi: 10.1126/scitranslmed.3000702

109.

Munzone E, Botteri E, Sandri MT, Esposito A, Adamoli L, Zorzino L, Sciandivasci A, Cassatella MC, Rotmensz N, Aurilio G, Curigliano G, Goldhirsch A, Nole F (2012) Prognostic value of circulating tumor cells according to immunohistochemically defined molecular subtypes in advanced breast cancer. Clin Breast Cancer 12:340–346. doi:10.1016/j.clbc.2012.07.001 PubMed

110.

Leary RJ, Sausen M, Kinde I, Papadopoulos N, Carpten JD, Craig D, O'Shaughnessy J, Kinzler KW, Parmigiani G, Vogelstein B, Diaz LA, Jr., Velculescu VE (2012) Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing. Sci Transl Med 4:162ra154. doi: 10.1126/scitranslmed.3004742

111.

Dawson SJ, Rosenfeld N, Caldas C (2013) Circulating tumor DNA to monitor metastatic breast cancer. N Engl J Med 369:93–94. doi:10.1056/NEJMc1306040 PubMed

Titel: Molecular classification of breast cancer
verfasst von: Darina Vuong
Peter T. Simpson
Benjamin Green
Margaret C. Cummings
Sunil R. Lakhani
Publikationsdatum: 01.07.2014
Verlag: Springer Berlin Heidelberg
Erschienen in: Virchows Archiv / Ausgabe 1/2014
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-014-1593-7

Klimawandel und Gesundheit: Was Sie in der Hausarztpraxis wissen müssen und tun können

Springer Medizin

Molecular classification of breast cancer

Abstract

Neu im Fachgebiet Pathologie

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie

Klimawandel und Gesundheit: Was Sie in der Hausarztpraxis wissen müssen und tun können

Springer Medizin

Abstract

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