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Translational Research in Breast Cancer pp 27–39Cite as

Biomarker Studies in Early Detection and Prognosis of Breast Cancer

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1026))

Abstract

Breast cancer is characterized with enormous heterogeneity, which represents the major hurdle for accurate diagnosis and curative therapy. It is generally believed that genome unstability and molecular evolvability underlie the robustness of cancer cells in hostile microenvironment and their resilience to therapeutic intervention. Conventional histopathological classification of breast cancer falls short of providing sufficient prognostic and predictive power, and thus biomarkers indicative of tumor intrinsic features at molecular levels have been actively pursued in biomedical researches. Currently, a number of molecular biomarkers are being used in standard clinical practice, including the hormone receptors for breast cancer subtyping and several genes involved in genome maintenance for prediction of breast cancer susceptibility. In addition, a number of biomarkers of single genes or multigene signatures have been approved for clinical use for breast cancer prognosis. A growing body of molecular biomarkers are being studied and tested to facilitate disease diagnosis and management, especially for breast cancer early detection, accurate prediction of metastatic behaviors, and selection of therapy. However, most of them are still at the preclinical stages. Finally, biomarkers of noninvasive protocols, such as serological molecules, have advantages in detection convenience over other biomarker types and therefore are of particular interest in translational and clinical development to improve diagnosis, prognosis, and treatment.

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References

  1. Media Centre-Cancer (Fact Sheet) (2017) World Health Organization http://www.who.int/mediacentre/factsheets/fs297/en/. Accessed Feb 1 2017

  2. Hinestrosa MC, Dickersin K, Klein P, Mayer M, Noss K, Slamon D, Sledge G, Visco FM (2007) Shaping the future of biomarker research in breast cancer to ensure clinical relevance. Nat Rev Cancer 7(4):309–315. doi:10.1038/nrc2113

    Article  CAS  PubMed  Google Scholar 

  3. Lynch HT, Krush AJ (1971) Carcinoma of the breast and ovary in three families. Surg Gynecol Obstet 133(4):644–648

    CAS  PubMed  Google Scholar 

  4. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250(4988):1684–1689

    Article  CAS  PubMed  Google Scholar 

  5. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Zelada-Hedman M et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The breast cancer linkage consortium. Am J Hum Genet 62(3):676–689

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Lord CJ, Ashworth A (2016) BRCAness revisited. Nat Rev Cancer 16(2):110–120. doi:10.1038/nrc.2015.21

    Article  CAS  PubMed  Google Scholar 

  7. Turner N, Tutt A, Ashworth A (2004) Hallmarks of ‘BRCAness’ in sporadic cancers. Nat Rev Cancer 4(10):814–819. doi:10.1038/nrc1457

    Article  CAS  PubMed  Google Scholar 

  8. Prakash R, Zhang Y, Feng W, Jasin M (2015) Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins. Cold Spring Harb Perspect Biol 7(4):a016600. doi:10.1101/cshperspect.a016600

    Article  PubMed  PubMed Central  Google Scholar 

  9. Fong PC, Boss DS, Yap TA, Tutt A, Wu P, Mergui-Roelvink M, Mortimer P, Swaisland H, Lau A, O’Connor MJ, Ashworth A, Carmichael J, Kaye SB, Schellens JH, de Bono JS (2009) Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 361(2):123–134. doi:10.1056/NEJMoa0900212

    Article  CAS  PubMed  Google Scholar 

  10. Couch FJ, Nathanson KL, Offit K (2014) Two decades after BRCA: setting paradigms in personalized cancer care and prevention. Science 343(6178):1466–1470. doi:10.1126/science.1251827

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Hisada M, Garber JE, Fung CY, Fraumeni JF Jr, Li FP (1998) Multiple primary cancers in families with li-Fraumeni syndrome. J Natl Cancer Inst 90(8):606–611

    Article  CAS  PubMed  Google Scholar 

  12. Kaurah P, MacMillan A, Boyd N, Senz J, De Luca A, Chun N, Suriano G, Zaor S, Van Manen L, Gilpin C, Nikkel S, Connolly-Wilson M, Weissman S, Rubinstein WS, Sebold C, Greenstein R, Stroop J, Yim D, Panzini B, McKinnon W, Greenblatt M, Wirtzfeld D, Fontaine D, Coit D, Yoon S, Chung D, Lauwers G, Pizzuti A, Vaccaro C, Redal MA, Oliveira C, Tischkowitz M, Olschwang S, Gallinger S, Lynch H, Green J, Ford J, Pharoah P, Fernandez B, Huntsman D (2007) Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA 297(21):2360–2372. doi:10.1001/jama.297.21.2360

    Article  CAS  PubMed  Google Scholar 

  13. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C et al (1999) PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 8(8):1461–1472

    Article  CAS  PubMed  Google Scholar 

  14. Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, Keller JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, Giardiello FM, Gruber SB, Offerhaus GJ, de Rooij FW, Wilson JH, Hansmann A, Moslein G, Royer-Pokora B, Vogel T, Phillips RK, Spigelman AD, Houlston RS (2006) Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 12(10):3209–3215. doi:10.1158/1078-0432.CCR-06-0083

    Article  CAS  PubMed  Google Scholar 

  15. Thompson D, Easton D (2004) The genetic epidemiology of breast cancer genes. J Mammary Gland Biol Neoplasia 9(3):221–236. doi:10.1023/B:JOMG.0000048770.90334.3b

    Article  PubMed  Google Scholar 

  16. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Breast Cancer Susceptibility C, Easton DF, Stratton MR (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39(2):165–167. doi:10.1038/ng1959

    Article  CAS  PubMed  Google Scholar 

  17. Erkko H, Xia B, Nikkila J, Schleutker J, Syrjakoski K, Mannermaa A, Kallioniemi A, Pylkas K, Karppinen SM, Rapakko K, Miron A, Sheng Q, Li G, Mattila H, Bell DW, Haber DA, Grip M, Reiman M, Jukkola-Vuorinen A, Mustonen A, Kere J, Aaltonen LA, Kosma VM, Kataja V, Soini Y, Drapkin RI, Livingston DM, Winqvist R (2007) A recurrent mutation in PALB2 in Finnish cancer families. Nature 446(7133):316–319. doi:10.1038/nature05609

    Article  CAS  PubMed  Google Scholar 

  18. Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, Byrd P, Taylor M, Easton DF (2005) Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 97(11):813–822. doi:10.1093/jnci/dji141

    Article  CAS  PubMed  Google Scholar 

  19. Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D, Breast Cancer Susceptibility C, Easton DF, Stratton MR, Rahman N (2006) Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 38(11):1239–1241. doi:10.1038/ng1902

    Article  CAS  PubMed  Google Scholar 

  20. Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R, Hollestelle A, Houben M, Crepin E, van Veghel-Plandsoen M, Elstrodt F, van Duijn C, Bartels C, Meijers C, Schutte M, McGuffog L, Thompson D, Easton D, Sodha N, Seal S, Barfoot R, Mangion J, Chang-Claude J, Eccles D, Eeles R, Evans DG, Houlston R, Murday V, Narod S, Peretz T, Peto J, Phelan C, Zhang HX, Szabo C, Devilee P, Goldgar D, Futreal PA, Nathanson KL, Weber B, Rahman N, Stratton MR, Consortium CH-BC (2002) Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31(1):55–59. doi:10.1038/ng879

    Article  CAS  PubMed  Google Scholar 

  21. Xia B, Sheng Q, Nakanishi K, Ohashi A, Wu J, Christ N, Liu X, Jasin M, Couch FJ, Livingston DM (2006) Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell 22(6):719–729. doi:10.1016/j.molcel.2006.05.022

    Article  CAS  PubMed  Google Scholar 

  22. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NG, Taylor AM, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y (1995) A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268(5218):1749–1753

    Article  CAS  PubMed  Google Scholar 

  23. Ahn J, Urist M, Prives C (2004) The Chk2 protein kinase. DNA Repair 3(8–9):1039–1047. doi:10.1016/j.dnarep.2004.03.033

    Article  CAS  PubMed  Google Scholar 

  24. Stratton MR, Rahman N (2008) The emerging landscape of breast cancer susceptibility. Nat Genet 40(1):17–22. doi:10.1038/ng.2007.53

    Article  CAS  PubMed  Google Scholar 

  25. Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, Freund M, Lichtner P, Hartmann L, Schaal H, Ramser J, Honisch E, Kubisch C, Wichmann HE, Kast K, Deissler H, Engel C, Muller-Myhsok B, Neveling K, Kiechle M, Mathew CG, Schindler D, Schmutzler RK, Hanenberg H (2010) Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 42(5):410–414. doi:10.1038/ng.569

    Article  CAS  PubMed  Google Scholar 

  26. Karppinen SM, Heikkinen K, Rapakko K, Winqvist R (2004) Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer. J Med Genet 41(9):e114. doi:10.1136/jmg.2004.020669

    Article  PubMed  PubMed Central  Google Scholar 

  27. Ghoussaini M, Fletcher O, Michailidou K, Turnbull C, Schmidt MK, Dicks E, Dennis J, Wang Q, Humphreys MK, Luccarini C, Baynes C, Conroy D, Maranian M, Ahmed S, Driver K, Johnson N, Orr N, dos Santos SI, Waisfisz Q, Meijers-Heijboer H, Uitterlinden AG, Rivadeneira F, Netherlands Collaborative Group on Hereditary B, Ovarian C, Hall P, Czene K, Irwanto A, Liu J, Nevanlinna H, Aittomaki K, Blomqvist C, Meindl A, Schmutzler RK, Muller-Myhsok B, Lichtner P, Chang-Claude J, Hein R, Nickels S, Flesch-Janys D, Tsimiklis H, Makalic E, Schmidt D, Bui M, Hopper JL, Apicella C, Park DJ, Southey M, Hunter DJ, Chanock SJ, Broeks A, Verhoef S, Hogervorst FB, Fasching PA, Lux MP, Beckmann MW, Ekici AB, Sawyer E, Tomlinson I, Kerin M, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guenel P, Truong T, Cordina-Duverger E, Menegaux F, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Alonso MR, Gonzalez-Neira A, Benitez J, Anton-Culver H, Ziogas A, Bernstein L, Dur CC, Brenner H, Muller H, Arndt V, Stegmaier C, Familial Breast Cancer S, Justenhoven C, Brauch H, Bruning T, Gene Environment Interaction of Breast Cancer in Germany N, Wang-Gohrke S, Eilber U, Dork T, Schurmann P, Bremer M, Hillemanns P, Bogdanova NV, Antonenkova NN, Rogov YI, Karstens JH, Bermisheva M, Prokofieva D, Khusnutdinova E, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Manoukian S, Bonanni B, Fortuzzi S, Peterlongo P, Couch FJ, Wang X, Stevens K, Lee A, Giles GG, Baglietto L, Severi G, McLean C, Alnaes GG, Kristensen V, Borrensen-Dale AL, John EM, Miron A, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Kauppila S, Andrulis IL, Glendon G, Mulligan AM, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Figueroa JD, Garcia-Closas M, Brinton L, Lissowska J, Hooning MJ, Hollestelle A, Oldenburg RA, van den Ouweland AM, Cox A, Reed MW, Shah M, Jakubowska A, Lubinski J, Jaworska K, Durda K, Jones M, Schoemaker M, Ashworth A, Swerdlow A, Beesley J, Chen X, kConFab I, Australian Ovarian Cancer Study G, Muir KR, Lophatananon A, Rattanamongkongul S, Chaiwerawattana A, Kang D, Yoo KY, Noh DY, Shen CY, Yu JC, Wu PE, Hsiung CN, Perkins A, Swann R, Velentzis L, Eccles DM, Tapper WJ, Gerty SM, Graham NJ, Ponder BA, Chenevix-Trench G, Pharoah PD, Lathrop M, Dunning AM, Rahman N, Peto J, Easton DF (2012) Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet 44(3):312–318. doi:10.1038/ng.1049

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Turnbull C, Ahmed S, Morrison J, Pernet D, Renwick A, Maranian M, Seal S, Ghoussaini M, Hines S, Healey CS, Hughes D, Warren-Perry M, Tapper W, Eccles D, Evans DG, Breast Cancer Susceptibility C, Hooning M, Schutte M, van den Ouweland A, Houlston R, Ross G, Langford C, Pharoah PD, Stratton MR, Dunning AM, Rahman N, Easton DF (2010) Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet 42(6):504–507. doi:10.1038/ng.586

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R, collaborators S, Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le Marchand L, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen CY, Wu PE, Wang HC, Eccles D, Evans DG, Peto J, Fletcher O, Johnson N, Seal S, Stratton MR, Rahman N, Chenevix-Trench G, Bojesen SE, Nordestgaard BG, Axelsson CK, Garcia-Closas M, Brinton L, Chanock S, Lissowska J, Peplonska B, Nevanlinna H, Fagerholm R, Eerola H, Kang D, Yoo KY, Noh DY, Ahn SH, Hunter DJ, Hankinson SE, Cox DG, Hall P, Wedren S, Liu J, Low YL, Bogdanova N, Schurmann P, Dork T, Tollenaar RA, Jacobi CE, Devilee P, Klijn JG, Sigurdson AJ, Doody MM, Alexander BH, Zhang J, Cox A, Brock IW, MacPherson G, Reed MW, Couch FJ, Goode EL, Olson JE, Meijers-Heijboer H, van den Ouweland A, Uitterlinden A, Rivadeneira F, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Hopper JL, McCredie M, Southey M, Giles GG, Schroen C, Justenhoven C, Brauch H, Hamann U, Ko YD, Spurdle AB, Beesley J, Chen X, kConFab, Group AM, Mannermaa A, Kosma VM, Kataja V, Hartikainen J, Day NE, Cox DR, Ponder BA (2007) Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447(7148):1087–1093. doi:10.1038/nature05887

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  30. Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q, Dicks E, Lee A, Turnbull C, Rahman N, Breast, Ovarian Cancer Susceptibility C, Fletcher O, Peto J, Gibson L, Dos Santos Silva I, Nevanlinna H, Muranen TA, Aittomaki K, Blomqvist C, Czene K, Irwanto A, Liu J, Waisfisz Q, Meijers-Heijboer H, Adank M, Hereditary B, Ovarian Cancer Research Group N, van der Luijt RB, Hein R, Dahmen N, Beckman L, Meindl A, Schmutzler RK, Muller-Myhsok B, Lichtner P, Hopper JL, Southey MC, Makalic E, Schmidt DF, Uitterlinden AG, Hofman A, Hunter DJ, Chanock SJ, Vincent D, Bacot F, Tessier DC, Canisius S, Wessels LF, Haiman CA, Shah M, Luben R, Brown J, Luccarini C, Schoof N, Humphreys K, Li J, Nordestgaard BG, Nielsen SF, Flyger H, Couch FJ, Wang X, Vachon C, Stevens KN, Lambrechts D, Moisse M, Paridaens R, Christiaens MR, Rudolph A, Nickels S, Flesch-Janys D, Johnson N, Aitken Z, Aaltonen K, Heikkinen T, Broeks A, Veer LJ, van der Schoot CE, Guenel P, Truong T, Laurent-Puig P, Menegaux F, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Zamora MP, Perez JI, Pita G, Alonso MR, Cox A, Brock IW, Cross SS, Reed MW, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Henderson BE, Schumacher F, Le Marchand L, Andrulis IL, Knight JA, Glendon G, Mulligan AM, kConFab I, Australian Ovarian Cancer Study G, Lindblom A, Margolin S, Hooning MJ, Hollestelle A, van den Ouweland AM, Jager A, Bui QM, Stone J, Dite GS, Apicella C, Tsimiklis H, Giles GG, Severi G, Baglietto L, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Muller H, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Jones M, Figueroa J, Lissowska J, Brinton L, Goldberg MS, Labreche F, Dumont M, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, Brauch H, Hamann U, Bruning T, Network G, Radice P, Peterlongo P, Manoukian S, Bonanni B, Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Jakubowska A, Lubinski J, Jaworska K, Durda K, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Bogdanova NV, Antonenkova NN, Dork T, Kristensen VN, Anton-Culver H, Slager S, Toland AE, Edge S, Fostira F, Kang D, Yoo KY, Noh DY, Matsuo K, Ito H, Iwata H, Sueta A, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Shu XO, Lu W, Gao YT, Cai H, Teo SH, Yip CH, Phuah SY, Cornes BK, Hartman M, Miao H, Lim WY, Sng JH, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Shen CY, Hsiung CN, Wu PE, Ding SL, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Blot WJ, Signorello LB, Cai Q, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Simard J, Garcia-Closas M, Pharoah PD, Chenevix-Trench G, Dunning AM, Benitez J, Easton DF (2013) Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 45(4):353–361., 361e351-352. doi:10.1038/ng.2563

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  31. 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(14):8418–8423. doi:10.1073/pnas.0932692100

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Prat A, Pineda E, Adamo B, Galvan P, Fernandez A, Gaba L, Diez M, Viladot M, Arance A, Munoz M (2015) Clinical implications of the intrinsic molecular subtypes of breast cancer. Breast 24(Suppl 2):S26–S35. doi:10.1016/j.breast.2015.07.008

    Article  PubMed  Google Scholar 

  33. Weigel MT, Dowsett M (2010) Current and emerging biomarkers in breast cancer: prognosis and prediction. Endocr Relat Cancer 17(4):R245–R262. doi:10.1677/ERC-10-0136

    Article  CAS  PubMed  Google Scholar 

  34. Reis-Filho JS, Pusztai L (2011) Gene expression profiling in breast cancer: classification, prognostication, and prediction. Lancet 378(9805):1812–1823. doi:10.1016/S0140-6736(11)61539-0

    Article  CAS  PubMed  Google Scholar 

  35. Lonning PE (2012) Poor-prognosis estrogen receptor- positive disease: present and future clinical solutions. Therapeutic advances in medical oncology 4(3):127–137. doi:10.1177/1758834012439338

    Article  PubMed  PubMed Central  Google Scholar 

  36. Foulkes WD, Smith IE, Reis-Filho JS (2010) Triple-negative breast cancer. N Engl J Med 363(20):1938–1948. doi:10.1056/NEJMra1001389

    Article  CAS  PubMed  Google Scholar 

  37. Sabatier R, Finetti P, Guille A, Adelaide J, Chaffanet M, Viens P, Birnbaum D, Bertucci F (2014) Claudin-low breast cancers: clinical, pathological, molecular and prognostic characterization. Mol Cancer 13:228. doi:10.1186/1476-4598-13-228

    Article  PubMed  PubMed Central  Google Scholar 

  38. Harris L, Fritsche H, Mennel R, Norton L, Ravdin P, Taube S, Somerfield MR, Hayes DF, Bast RC, Jr., American Society of Clinical O (2007) American Society of Clinical Oncology 2007 update of recommendations for the use of tumor markers in breast cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 25(33):5287–5312. doi:10.1200/JCO.2007.14.2364

    Article  Google Scholar 

  39. Kyle RA, Yee GC, Somerfield MR, Flynn PJ, Halabi S, Jagannath S, Orlowski RZ, Roodman DG, Twilde P, Anderson K, American Society of Clinical O (2007) American Society of Clinical Oncology 2007 clinical practice guideline update on the role of bisphosphonates in multiple myeloma. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 25(17):2464–2472. doi:10.1200/JCO.2007.12.1269

    Article  Google Scholar 

  40. Li J, Zhang Z, Rosenzweig J, Wang YY, Chan DW (2002) Proteomics and bioinformatics approaches for identification of serum biomarkers to detect breast cancer. Clin Chem 48(8):1296–1304

    CAS  PubMed  Google Scholar 

  41. Kim RH, Peters M, Jang Y, Shi W, Pintilie M, Fletcher GC, DeLuca C, Liepa J, Zhou L, Snow B, Binari RC, Manoukian AS, Bray MR, Liu FF, Tsao MS, Mak TW (2005) DJ-1, a novel regulator of the tumor suppressor PTEN. Cancer Cell 7(3):263–273. doi:10.1016/j.ccr.2005.02.010

    Article  CAS  PubMed  Google Scholar 

  42. Le Naour F, Misek DE, Krause MC, Deneux L, Giordano TJ, Scholl S, Hanash SM (2001) Proteomics-based identification of RS/DJ-1 as a novel circulating tumor antigen in breast cancer. Clin Cancer Res 7(11):3328–3335

    PubMed  Google Scholar 

  43. Zhao H, Shen J, Medico L, Wang D, Ambrosone CB, Liu S (2010) A pilot study of circulating miRNAs as potential biomarkers of early stage breast cancer. PLoS One 5(10):e13735. doi:10.1371/journal.pone.0013735

    Article  PubMed  PubMed Central  Google Scholar 

  44. Kazarian A, Blyuss O, Metodieva G, Gentry-Maharaj A, Ryan A, Kiseleva EM, Prytomanova OM, Jacobs IJ, Widschwendter M, Menon U, Timms JF (2017) Testing breast cancer serum biomarkers for early detection and prognosis in pre-diagnosis samples. Br J Cancer 116(4):501–508. doi:10.1038/bjc.2016.433

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  45. Kang Y, Siegel PM, Shu W, Drobnjak M, Kakonen SM, Cordon-Cardo C, Guise TA, Massague J (2003) A multigenic program mediating breast cancer metastasis to bone. Cancer Cell 3(6):537–549

    Article  CAS  PubMed  Google Scholar 

  46. Minn AJ, Gupta GP, Siegel PM, Bos PD, Shu W, Giri DD, Viale A, Olshen AB, Gerald WL, Massague J (2005) Genes that mediate breast cancer metastasis to lung. Nature 436(7050):518–524

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  47. Bos PD, Zhang XH, Nadal C, Shu W, Gomis RR, Nguyen DX, Minn AJ, van de Vijver MJ, Gerald WL, Foekens JA, Massague J (2009) Genes that mediate breast cancer metastasis to the brain. Nature 459(7249):1005–1009. doi:10.1038/nature08021

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  48. Wang Y, Lei R, Zhuang X, Zhang N, Pan H, Li G, Hu J, Pan X, Tao Q, Fu D, Xiao J, Chin YE, Kang Y, Yang Q, Hu G (2014) DLC1-dependent parathyroid hormone-like hormone inhibition suppresses breast cancer bone metastasis. J Clin Invest 124(4):1646–1659. doi:10.1172/JCI71812

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  49. Harada S, Rodan GA (2003) Control of osteoblast function and regulation of bone mass. Nature 423(6937):349–355. doi:10.1038/nature01660

    Article  CAS  PubMed  Google Scholar 

  50. Logothetis CJ, Lin SH (2005) Osteoblasts in prostate cancer metastasis to bone. Nat Rev Cancer 5(1):21–28. doi:10.1038/nrc1528

    Article  CAS  PubMed  Google Scholar 

  51. Rucci N, Sanita P, Delle Monache S, Alesse E, Angelucci A (2014) Molecular pathogenesis of bone metastases in breast cancer: proven and emerging therapeutic targets. World journal of clinical oncology 5(3):335–347. doi:10.5306/wjco.v5.i3.335

    Article  PubMed  PubMed Central  Google Scholar 

  52. Blanco MA, LeRoy G, Khan Z, Aleckovic M, Zee BM, Garcia BA, Kang Y (2012) Global secretome analysis identifies novel mediators of bone metastasis. Cell Res 22(9):1339–1355. doi:10.1038/cr.2012.89

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  53. DiMeo TA, Anderson K, Phadke P, Fan C, Perou CM, Naber S, Kuperwasser C (2009) A novel lung metastasis signature links Wnt signaling with cancer cell self-renewal and epithelial-mesenchymal transition in basal-like breast cancer. Cancer Res 69(13):5364–5373. doi:10.1158/0008-5472.CAN-08-4135

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  54. Gao H, Chakraborty G, Lee-Lim AP, Mo Q, Decker M, Vonica A, Shen R, Brogi E, Brivanlou AH, Giancotti FG (2012) The BMP inhibitor coco reactivates breast cancer cells at lung metastatic sites. Cell 150(4):764–779. doi:10.1016/j.cell.2012.06.035

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  55. Wculek SK, Malanchi I (2015) Neutrophils support lung colonization of metastasis-initiating breast cancer cells. Nature 528(7582):413–417. doi:10.1038/nature16140

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  56. Chen Q, Zhang XH, Massague J (2011) Macrophage binding to receptor VCAM-1 transmits survival signals in breast cancer cells that invade the lungs. Cancer Cell 20(4):538–549. doi:10.1016/j.ccr.2011.08.025

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  57. Zhang L, Zhang S, Yao J, Lowery FJ, Zhang Q, Huang WC, Li P, Li M, Wang X, Zhang C, Wang H, Ellis K, Cheerathodi M, McCarty JH, Palmieri D, Saunus J, Lakhani S, Huang S, Sahin AA, Aldape KD, Steeg PS, Yu D (2015) Microenvironment-induced PTEN loss by exosomal microRNA primes brain metastasis outgrowth. Nature 527(7576):100–104. doi:10.1038/nature15376

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  58. Hoshino A, Costa-Silva B, Shen TL, Rodrigues G, Hashimoto A, Mark MT, Molina H, Kohsaka S, Di Giannatale A, Ceder S, Singh S, Williams C, Soplop N, Uryu K, Pharmer L, King T, Bojmar L, Davies AE, Ararso Y, Zhang T, Zhang H, Hernandez J, Weiss JM, Dumont-Cole VD, Kramer K, Wexler LH, Narendran A, Schwartz GK, Healey JH, Sandstrom P, Labori KJ, Kure EH, Grandgenett PM, Hollingsworth MA, de Sousa M, Kaur S, Jain M, Mallya K, Batra SK, Jarnagin WR, Brady MS, Fodstad O, Muller V, Pantel K, Minn AJ, Bissell MJ, Garcia BA, Kang Y, Rajasekhar VK, Ghajar CM, Matei I, Peinado H, Bromberg J, Lyden D (2015) Tumour exosome integrins determine organotropic metastasis. Nature 527 (7578):329−+. doi:10.1038/nature15756

  59. Korpal M, Kang Y (2008) The emerging role of miR-200 family of microRNAs in epithelial-mesenchymal transition and cancer metastasis. RNA Biol 5(3):115–119

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  60. Valastyan S, Reinhardt F, Benaich N, Calogrias D, Szasz AM, Wang ZC, Brock JE, Richardson AL, Weinberg RA (2009) A pleiotropically acting microRNA, miR-31, inhibits breast cancer metastasis. Cell 137(6):1032–1046. doi:10.1016/j.cell.2009.03.047

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  61. Ma L, Young J, Prabhala H, Pan E, Mestdagh P, Muth D, Teruya-Feldstein J, Reinhardt F, Onder TT, Valastyan S, Westermann F, Speleman F, Vandesompele J, Weinberg RA (2010) miR-9, a MYC/MYCN-activated microRNA, regulates E-cadherin and cancer metastasis. Nat Cell Biol 12(3):247–256. doi:10.1038/ncb2024

    CAS  PubMed  PubMed Central  Google Scholar 

  62. Ma L, Reinhardt F, Pan E, Soutschek J, Bhat B, Marcusson EG, Teruya-Feldstein J, Bell GW, Weinberg RA (2010) Therapeutic silencing of miR-10b inhibits metastasis in a mouse mammary tumor model. Nat Biotechnol 28(4):341–347. doi:10.1038/nbt.1618

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  63. Sauter ER, Zhu W, Fan XJ, Wassell RP, Chervoneva I, Du Bois GC (2002) Proteomic analysis of nipple aspirate fluid to detect biologic markers of breast cancer. Br J Cancer 86(9):1440–1443. doi:10.1038/sj.bjc.6600285

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  64. Kennedy S (2001) Proteomic profiling from human samples: the body fluid alternative. Toxicol Lett 120(1–3):379–384

    Article  CAS  PubMed  Google Scholar 

  65. Evron E, Dooley WC, Umbricht CB, Rosenthal D, Sacchi N, Gabrielson E, Soito AB, Hung DT, Ljung B, Davidson NE, Sukumar S (2001) Detection of breast cancer cells in ductal lavage fluid by methylation-specific PCR. Lancet 357(9265):1335–1336

    Article  CAS  PubMed  Google Scholar 

  66. Duffy MJ, Shering S, Sherry F, McDermott E, O’Higgins N (2000) CA 15-3: a prognostic marker in breast cancer. Int J Biol Markers 15(4):330–333

    CAS  PubMed  Google Scholar 

  67. Duffy MJ (1999) CA 15-3 and related mucins as circulating markers in breast cancer. Ann Clin Biochem 36:579–586

    Article  CAS  PubMed  Google Scholar 

  68. Duffy MJ, Duggan C, Keane R, Hill AD, McDermott E, Crown J, O’Higgins N (2004) High preoperative CA 15-3 concentrations predict adverse outcome in node-negative and node-positive breast cancer: study of 600 patients with histologically confirmed breast cancer. Clin Chem 50(3):559–563. doi:10.1373/clinchem.2003.025288

    Article  CAS  PubMed  Google Scholar 

  69. Gumireddy K, Li A, Gimotty PA, Klein-Szanto AJ, Showe LC, Katsaros D, Coukos G, Zhang L, Huang Q (2009) KLF17 is a negative regulator of epithelial-mesenchymal transition and metastasis in breast cancer. Nat Cell Biol 11(11):1297–1304. doi:10.1038/ncb1974

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  70. Uehara M, Kinoshita T, Hojo T, Akashi-Tanaka S, Iwamoto E, Fukutomi T (2008) Long-term prognostic study of carcinoembryonic antigen (CEA) and carbohydrate antigen 15-3 (CA 15-3) in breast cancer. Int J Clin Oncol 13(5):447–451. doi:10.1007/s10147-008-0773-3

    Article  CAS  PubMed  Google Scholar 

  71. Cristofanilli M, Hayes DF, Budd GT, Ellis MJ, Stopeck A, Reuben JM, Doyle GV, Matera J, Allard WJ, Miller MC, Fritsche HA, Hortobagyi GN, Terstappen LW (2005) Circulating tumor cells: a novel prognostic factor for newly diagnosed metastatic breast cancer. J Clin Oncol 23(7):1420–1430. doi:10.1200/JCO.2005.08.140

    Article  PubMed  Google Scholar 

  72. Dawson SJ, Tsui DW, Murtaza M, Biggs H, Rueda OM, Chin SF, Dunning MJ, Gale D, Forshew T, Mahler-Araujo B, Rajan S, Humphray S, Becq J, Halsall D, Wallis M, Bentley D, Caldas C, Rosenfeld N (2013) Analysis of circulating tumor DNA to monitor metastatic breast cancer. N Engl J Med 368(13):1199–1209. doi:10.1056/NEJMoa1213261

    Article  CAS  PubMed  Google Scholar 

  73. Bettegowda C, Sausen M, Leary RJ, Kinde I, Wang Y, Agrawal N, Bartlett BR, Wang H, Luber B, Alani RM, Antonarakis ES, Azad NS, Bardelli A, Brem H, Cameron JL, Lee CC, Fecher LA, Gallia GL, Gibbs P, Le D, Giuntoli RL, Goggins M, Hogarty MD, Holdhoff M, Hong SM, Jiao Y, Juhl HH, Kim JJ, Siravegna G, Laheru DA, Lauricella C, Lim M, Lipson EJ, Marie SK, Netto GJ, Oliner KS, Olivi A, Olsson L, Riggins GJ, Sartore-Bianchi A, Schmidt K, Shih l M, Oba-Shinjo SM, Siena S, Theodorescu D, Tie J, Harkins TT, Veronese S, Wang TL, Weingart JD, Wolfgang CL, Wood LD, Xing D, Hruban RH, Wu J, Allen PJ, Schmidt CM, Choti MA, Velculescu VE, Kinzler KW, Vogelstein B, Papadopoulos N, Diaz LA, Jr. (2014) Detection of circulating tumor DNA in early- and late-stage human malignancies. Science translational medicine 6(224):224ra224. doi:10.1126/scitranslmed.3007094

  74. Esteller M, Corn PG, Urena JM, Gabrielson E, Baylin SB, Herman JG (1998) Inactivation of glutathione S-transferase P1 gene by promoter hypermethylation in human neoplasia. Cancer Res 58(20):4515–4518

    CAS  PubMed  Google Scholar 

  75. Heyn H, Carmona FJ, Gomez A, Ferreira HJ, Bell JT, Sayols S, Ward K, Stefansson OA, Moran S, Sandoval J, Eyfjord JE, Spector TD, Esteller M (2013) DNA methylation profiling in breast cancer discordant identical twins identifies DOK7 as novel epigenetic biomarker. Carcinogenesis 34(1):102–108. doi:10.1093/carcin/bgs321

    Article  CAS  PubMed  Google Scholar 

  76. Dworkin AM, Huang TH, Toland AE (2009) Epigenetic alterations in the breast: implications for breast cancer detection, prognosis and treatment. Semin Cancer Biol 19(3):165–171. doi:10.1016/j.semcancer.2009.02.007

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  77. Radpour R, Barekati Z, Kohler C, Lv Q, Burki N, Diesch C, Bitzer J, Zheng H, Schmid S, Zhong XY (2011) Hypermethylation of tumor suppressor genes involved in critical regulatory pathways for developing a blood-based test in breast cancer. PLoS One 6(1):e16080. doi:10.1371/journal.pone.0016080

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  78. Calin GA, Croce CM (2006) MicroRNA signatures in human cancers. Nat Rev Cancer 6(11):857–866. doi:10.1038/nrc1997

    Article  CAS  PubMed  Google Scholar 

  79. He L, He X, Lim LP, de Stanchina E, Xuan Z, Liang Y, Xue W, Zender L, Magnus J, Ridzon D, Jackson AL, Linsley PS, Chen C, Lowe SW, Cleary MA, Hannon GJ (2007) A microRNA component of the p53 tumour suppressor network. Nature 447(7148):1130–1134

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  80. Mitchell PS, Parkin RK, Kroh EM, Fritz BR, Wyman SK, Pogosova-Agadjanyan EL, Peterson A, Noteboom J, O’Briant KC, Allen A, Lin DW, Urban N, Drescher CW, Knudsen BS, Stirewalt DL, Gentleman R, Vessella RL, Nelson PS, Martin DB, Tewari M (2008) Circulating microRNAs as stable blood-based markers for cancer detection. Proc Natl Acad Sci U S A 105(30):10513–10518. doi:10.1073/pnas.0804549105

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  81. Madhavan D, Zucknick M, Wallwiener M, Cuk K, Modugno C, Scharpff M, Schott S, Heil J, Turchinovich A, Yang R, Benner A, Riethdorf S, Trumpp A, Sohn C, Pantel K, Schneeweiss A, Burwinkel B (2012) Circulating miRNAs as surrogate markers for circulating tumor cells and prognostic markers in metastatic breast cancer. Clin Cancer Res 18(21):5972–5982. doi:10.1158/1078-0432.CCR-12-1407

    Article  CAS  PubMed  Google Scholar 

  82. Mar-Aguilar F, Mendoza-Ramirez JA, Malagon-Santiago I, Espino-Silva PK, Santuario-Facio SK, Ruiz-Flores P, Rodriguez-Padilla C, Resendez-Perez D (2013) Serum circulating microRNA profiling for identification of potential breast cancer biomarkers. Dis Markers 34(3):163–169. doi:10.3233/DMA-120957

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  83. Ng EK, Li R, Shin VY, Jin HC, Leung CP, Ma ES, Pang R, Chua D, Chu KM, Law WL, Law SY, Poon RT, Kwong A (2013) Circulating microRNAs as specific biomarkers for breast cancer detection. PLoS One 8(1):e53141. doi:10.1371/journal.pone.0053141

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  84. Si H, Sun X, Chen Y, Cao Y, Chen S, Wang H, Hu C (2013) Circulating microRNA-92a and microRNA-21 as novel minimally invasive biomarkers for primary breast cancer. J Cancer Res Clin Oncol 139(2):223–229. doi:10.1007/s00432-012-1315-y

    Article  CAS  PubMed  Google Scholar 

  85. Cuk K, Zucknick M, Heil J, Madhavan D, Schott S, Turchinovich A, Arlt D, Rath M, Sohn C, Benner A, Junkermann H, Schneeweiss A, Burwinkel B (2013) Circulating microRNAs in plasma as early detection markers for breast cancer. Int J Cancer 132(7):1602–1612. doi:10.1002/ijc.27799

    Article  CAS  PubMed  Google Scholar 

  86. Guo LJ, Zhang QY (2012) Decreased serum miR-181a is a potential new tool for breast cancer screening. Int J Mol Med 30(3):680–686. doi:10.3892/ijmm.2012.1021

    Article  CAS  PubMed  Google Scholar 

  87. Zhu W, Qin W, Atasoy U, Sauter ER (2009) Circulating microRNAs in breast cancer and healthy subjects. BMC Res Notes 2:89. doi:10.1186/1756-0500-2-89

    Article  PubMed  PubMed Central  Google Scholar 

  88. Wang H, Tan G, Dong L, Cheng L, Li K, Wang Z, Luo H (2012) Circulating MiR-125b as a marker predicting chemoresistance in breast cancer. PLoS One 7(4):e34210. doi:10.1371/journal.pone.0034210

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  89. Alderton GK (2012) Metastasis. Exosomes drive premetastatic niche formation. Nat Rev Cancer 12(7):447. doi:10.1038/nrc3304

    Article  PubMed  Google Scholar 

  90. Taylor DD, Gercel-Taylor C (2008) MicroRNA signatures of tumor-derived exosomes as diagnostic biomarkers of ovarian cancer. Gynecol Oncol 110(1):13–21. doi:10.1016/j.ygyno.2008.04.033

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Chinese Academy of Sciences, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Shanghai, China

    Gang Li, Jing Hu & Guohong Hu

  2. Shanghai Jiao-Tong University School of Medicine, Shanghai, 200025, China

    Guohong Hu

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  1. Gang Li
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  2. Jing Hu
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  1. Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China

    Erwei Song

  2. Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China

    Hai Hu

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Li, G., Hu, J., Hu, G. (2017). Biomarker Studies in Early Detection and Prognosis of Breast Cancer. In: Song, E., Hu, H. (eds) Translational Research in Breast Cancer. Advances in Experimental Medicine and Biology, vol 1026. Springer, Singapore. https://doi.org/10.1007/978-981-10-6020-5_2

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