Breast cancer intrinsic subtype classification, clinical use and future trends.

Breast cancer is composed of multiple subtypes with distinct morphologies and clinical implications. The advent of microarrays has led to a new paradigm in deciphering breast cancer heterogeneity, based on which the intrinsic subtyping system using prognostic multigene classifiers was developed. Subtypes identified using different gene panels, though overlap to a great extent, do not completely converge, and the avail of new information and perspectives has led to the emergence of novel subtypes, which complicate our understanding towards breast tumor heterogeneity. This review explores and summarizes the existing intrinsic subtypes, patient clinical features and management, commercial signature panels, as well as various information used for tumor classification. Two trends are pointed out in the end on breast cancer subtyping, i.e., either diverging to more refined groups or converging to the major subtypes. This review improves our understandings towards breast cancer intrinsic classification, current status on clinical application, and future trends.

[1]  G. Ball,et al.  High‐throughput protein expression analysis using tissue microarray technology of a large well‐characterised series identifies biologically distinct classes of breast cancer confirming recent cDNA expression analyses , 2005, International journal of cancer.

[2]  A. Paradiso,et al.  MicroRNA expression profiling in male and female familial breast cancer , 2014, British Journal of Cancer.

[3]  Ping Tang,et al.  Molecular classifications of breast carcinoma with similar terminology and different definitions: are they the same? , 2008, Human pathology.

[4]  Jack Cuzick,et al.  Prediction of risk of distant recurrence using the 21-gene recurrence score in node-negative and node-positive postmenopausal patients with breast cancer treated with anastrozole or tamoxifen: a TransATAC study. , 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[5]  Stefano Volinia,et al.  MicroRNA expression profiling of male breast cancer , 2009, Breast Cancer Research.

[6]  Fabien Campagne,et al.  DNA methylation signatures identify biologically distinct subtypes in acute myeloid leukemia. , 2010, Cancer cell.

[7]  Yudong D. He,et al.  Gene expression profiling predicts clinical outcome of breast cancer , 2002, Nature.

[8]  G. Ewald,et al.  Deep RNA Sequencing Reveals Dynamic Regulation of Myocardial Noncoding RNAs in Failing Human Heart and Remodeling With Mechanical Circulatory Support , 2014, Circulation.

[9]  Ming Tan,et al.  PTEN activation contributes to tumor inhibition by trastuzumab, and loss of PTEN predicts trastuzumab resistance in patients. , 2004, Cancer cell.

[10]  H. Gómez,et al.  Breast cancer classification according to immunohistochemistry markers: subtypes and association with clinicopathologic variables in a peruvian hospital database. , 2010, Clinical breast cancer.

[11]  Päivi Heikkilä,et al.  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 , 2010, PLoS medicine.

[12]  G. Calin,et al.  MYC-microRNA-9-metastasis connection in breast cancer , 2010, Cell Research.

[13]  A. Gown,et al.  Immunohistochemical and Clinical Characterization of the Basal-Like Subtype of Invasive Breast Carcinoma , 2004, Clinical Cancer Research.

[14]  C. Croce,et al.  microRNA-205 regulates HER3 in human breast cancer. , 2009, Cancer research.

[15]  Lajos Pusztai,et al.  Predicting prognosis of breast cancer with gene signatures: are we lost in a sea of data? , 2010, Genome Medicine.

[16]  R. Salunga,et al.  A Five-Gene Molecular Grade Index and HOXB13:IL17BR Are Complementary Prognostic Factors in Early Stage Breast Cancer , 2008, Clinical Cancer Research.

[17]  L. Mazzucchelli,et al.  Breast cancer classification according to immunohistochemical markers: clinicopathologic features and short-term survival analysis in a population-based study from the South of Switzerland. , 2009, Annals of oncology : official journal of the European Society for Medical Oncology.

[18]  S. Cole,et al.  Intrinsic Breast Tumor Subtypes, Race, and Long-Term Survival in the Carolina Breast Cancer Study , 2010, Clinical Cancer Research.

[19]  R. Tibshirani,et al.  Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[20]  G. Calin,et al.  miRNAs and long noncoding RNAs as biomarkers in human diseases , 2013, Expert review of molecular diagnostics.

[21]  Charles M. Perou,et al.  Ki67 Index, HER2 Status, and Prognosis of Patients With Luminal B Breast Cancer , 2009, Journal of the National Cancer Institute.

[22]  Wei Wang,et al.  A two-gene expression ratio predicts clinical outcome in breast cancer patients treated with tamoxifen. , 2004, Cancer cell.

[23]  Philip M. Long,et al.  Breast cancer classification and prognosis based on gene expression profiles from a population-based study , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[24]  Christos Sotiriou,et al.  Luminal B breast cancer: molecular characterization, clinical management, and future perspectives. , 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[25]  Yingyi Wang,et al.  Long Noncoding RNA Profiles Reveal Three Molecular Subtypes in Glioma , 2014, CNS neuroscience & therapeutics.

[26]  J. Herman,et al.  Hypermethylation in Histologically Distinct Classes of Breast Cancer , 2004, Clinical Cancer Research.

[27]  R. Greil,et al.  Predicting distant recurrence in receptor-positive breast cancer patients with limited clinicopathological risk: using the PAM50 Risk of Recurrence score in 1478 postmenopausal patients of the ABCSG-8 trial treated with adjuvant endocrine therapy alone. , 2014, Annals of oncology : official journal of the European Society for Medical Oncology.

[28]  A. Lund,et al.  MicroRNA and cancer , 2012, Molecular oncology.

[29]  A. Morikawa,et al.  Palbociclib for the Treatment of Estrogen Receptor–Positive, HER2-Negative Metastatic Breast Cancer , 2015, Clinical Cancer Research.

[30]  S. Advani CpG Island Methylator Phenotype in Colorectal Cancer , 2017 .

[31]  Van,et al.  A gene-expression signature as a predictor of survival in breast cancer. , 2002, The New England journal of medicine.

[32]  L. Pusztai,et al.  Gene expression profiling in breast cancer: classification, prognostication, and prediction , 2011, The Lancet.

[33]  Michael L. Gatza,et al.  A pathway-based classification of human breast cancer , 2010, Proceedings of the National Academy of Sciences.

[34]  George A Calin,et al.  Long noncoding RNA in prostate, bladder, and kidney cancer. , 2014, European urology.

[35]  Benjamin Haibe-Kains,et al.  Improvement of the clinical applicability of the Genomic Grade Index through a qRT-PCR test performed on frozen and formalin-fixed paraffin-embedded tissues , 2009, BMC Genomics.

[36]  C. Perou,et al.  Race, breast cancer subtypes, and survival in the Carolina Breast Cancer Study. , 2006, JAMA.

[37]  R. Tibshirani,et al.  Repeated observation of breast tumor subtypes in independent gene expression data sets , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[38]  Steven J. M. Jones,et al.  Comprehensive molecular portraits of human breast tumors , 2012, Nature.

[39]  G. Mills,et al.  miR-145 participates with TP53 in a death-promoting regulatory loop and targets estrogen receptor-α in human breast cancer cells , 2010, Cell Death and Differentiation.

[40]  X. Chen,et al.  Identification of human triple-negative breast cancer subtypes and preclinical models for selection of targeted therapies. , 2011, The Journal of clinical investigation.

[41]  C. Croce,et al.  MicroRNA cluster 221-222 and estrogen receptor alpha interactions in breast cancer. , 2010, Journal of the National Cancer Institute.

[42]  William M. Grady,et al.  Epigenetics and colorectal cancer , 2011, Nature Reviews Gastroenterology &Hepatology.

[43]  J. Mattick,et al.  SNORD-host RNA Zfas1 is a regulator of mammary development and a potential marker for breast cancer. , 2011, RNA.

[44]  C. Caldas,et al.  Molecular classification and molecular forecasting of breast cancer: ready for clinical application? , 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[45]  M. Hennessy,et al.  Prevalence and Correlates of HIV Testing Among Sexually Active African American Adolescents in 4 US Cities , 2009, Sexually transmitted diseases.

[46]  A. Nobel,et al.  Concordance among Gene-Expression – Based Predictors for Breast Cancer , 2011 .

[47]  Stijn van Dongen,et al.  miRBase: tools for microRNA genomics , 2007, Nucleic Acids Res..

[48]  J. Chang-Claude,et al.  Serum 25-hydroxyvitamin D and risk of post-menopausal breast cancer--results of a large case-control study. , 2007, Carcinogenesis.

[49]  Graham A Colditz,et al.  Risk factors for breast cancer according to estrogen and progesterone receptor status. , 2004, Journal of the National Cancer Institute.

[50]  D. Steinemann,et al.  The CpG island methylator phenotype in breast cancer is associated with the lobular subtype. , 2015, Epigenomics.

[51]  Jorge S Reis-Filho,et al.  The contribution of gene expression profiling to breast cancer classification, prognostication and prediction: a retrospective of the last decade , 2010, The Journal of pathology.

[52]  J. Jones,et al.  Characterization of basal-like breast cancer: an update , 2012 .

[53]  C. Croce,et al.  Clinical Applications for microRNAs in Cancer , 2013, Clinical pharmacology and therapeutics.

[54]  Leonard D. Goldstein,et al.  MicroRNA expression profiling of human breast cancer identifies new markers of tumor subtype , 2007, Genome Biology.

[55]  J. Haerting,et al.  Gene-expression signatures in breast cancer. , 2003, The New England journal of medicine.

[56]  F. Reyal,et al.  The histone chaperone HJURP is a new independent prognostic marker for luminal A breast carcinoma , 2015, Molecular oncology.

[57]  F. Markowetz,et al.  The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups , 2012, Nature.

[58]  J. Foekens,et al.  Gene-expression profiles to predict distant metastasis of lymph-node-negative primary breast cancer , 2005, The Lancet.

[59]  K. Hess,et al.  Effect of molecular disease subsets on disease-free survival in randomized adjuvant chemotherapy trials for estrogen receptor-positive breast cancer. , 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[60]  A. Ashworth,et al.  Breast cancer molecular profiling with single sample predictors: a retrospective analysis. , 2010, The Lancet. Oncology.

[61]  Joshy George,et al.  Genetic reclassification of histologic grade delineates new clinical subtypes of breast cancer. , 2006, Cancer research.

[62]  C. Leslie,et al.  Linking signaling pathways to transcriptional programs in breast cancer , 2014, Genome research.

[63]  C. Croce,et al.  MicroRNA gene expression deregulation in human breast cancer. , 2005, Cancer research.

[64]  C. Croce,et al.  A microRNA expression signature of human solid tumors defines cancer gene targets , 2006, Proceedings of the National Academy of Sciences of the United States of America.

[65]  Aleix Prat Aparicio Comprehensive molecular portraits of human breast tumours , 2012 .

[66]  Christian A. Rees,et al.  Molecular portraits of human breast tumours , 2000, Nature.

[67]  A. Nobel,et al.  Supervised risk predictor of breast cancer based on intrinsic subtypes. , 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[68]  John W M Martens,et al.  Subtypes of breast cancer show preferential site of relapse. , 2008, Cancer research.

[69]  Xiang Du,et al.  The long non-coding RNAs, a new cancer diagnostic and therapeutic gold mine , 2013, Modern Pathology.

[70]  Zhonghu Bai,et al.  Integrative investigation on breast cancer in ER, PR and HER2-defined subgroups using mRNA and miRNA expression profiling , 2014, Scientific Reports.

[71]  Thomas Tuschl,et al.  MicroRNAs in human cancer. , 2013, Advances in experimental medicine and biology.

[72]  C. Sotiriou,et al.  Meta-analysis of gene expression profiles in breast cancer: toward a unified understanding of breast cancer subtyping and prognosis signatures , 2007, Breast Cancer Research.

[73]  Howard Y. Chang,et al.  Robustness, scalability, and integration of a wound-response gene expression signature in predicting breast cancer survival. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[74]  Robert B Livingston,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. , 2010, The Lancet. Oncology.

[75]  J. Mattick,et al.  Long non-coding RNAs: insights into functions , 2009, Nature Reviews Genetics.

[76]  A. Nobel,et al.  The molecular portraits of breast tumors are conserved across microarray platforms , 2006, BMC Genomics.

[77]  Jack Cuzick,et al.  Comparison of PAM50 risk of recurrence score with oncotype DX and IHC4 for predicting risk of distant recurrence after endocrine therapy. , 2013, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[78]  M. Cronin,et al.  A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. , 2004, The New England journal of medicine.

[79]  C. Sotiriou,et al.  Development and Validation of Gene Expression Profile Signatures in Early-Stage Breast Cancer , 2009, Cancer investigation.

[80]  L. V. van't Veer,et al.  Validation and clinical utility of a 70-gene prognostic signature for women with node-negative breast cancer. , 2006, Journal of the National Cancer Institute.

[81]  M. Cronin,et al.  Gene expression and benefit of chemotherapy in women with node-negative, estrogen receptor-positive breast cancer. , 2006, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[82]  S. Krishnamurthy Morphological and Immunophenotypic Analysis of Breast Carcinomas With Basal and Myoepithelial Differentiation , 2007 .

[83]  M. Esteller Non-coding RNAs in human disease , 2011, Nature Reviews Genetics.

[84]  Jorge S. Reis-Filho,et al.  Molecular Profiling: Moving Away from Tumor Philately , 2010, Science Translational Medicine.

[85]  M. J. van de Vijver,et al.  Gene expression profiling in breast cancer: understanding the molecular basis of histologic grade to improve prognosis. , 2006, Journal of the National Cancer Institute.

[86]  Howard Y. Chang,et al.  Molecular mechanisms of long noncoding RNAs. , 2011, Molecular cell.