The genomic landscape of breast cancer and its interaction with host immunity

The Breast - Tập 29 - Trang 241-250 - 2016
Stephen Luen1, Balaji Virassamy1, Peter Savas1, Roberto Salgado2, Sherene Loi1
1Peter MacCallum Cancer Centre, University of Melbourne, Melbourne, Victoria, Australia
2Institut Jules Bordet, Brussels, Belgium

Tài liệu tham khảo

Hanahan, 2000, The hallmarks of cancer, Cell, 100, 57, 10.1016/S0092-8674(00)81683-9 Collins, 2003, The human genome project: lessons from large-scale biology, Science, 300, 286, 10.1126/science.1084564 Cancer Genome Atlas, 2012, Comprehensive molecular portraits of human breast tumours, Nature, 490, 61, 10.1038/nature11412 Curtis, 2012, The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups, Nature, 486, 346, 10.1038/nature10983 Stephens, 2012, The landscape of cancer genes and mutational processes in breast cancer, Nature, 486, 400, 10.1038/nature11017 Shah, 2012, The clonal and mutational evolution spectrum of primary triple-negative breast cancers, Nature, 486, 395, 10.1038/nature10933 Schreiber, 2011, Cancer immunoediting: integrating immunity's roles in cancer suppression and promotion, Science, 331, 1565, 10.1126/science.1203486 Kroemer, 2015, Natural and therapy-induced immunosurveillance in breast cancer, Nat Med, 21, 1128, 10.1038/nm.3944 Hanahan, 2011, Hallmarks of cancer: the next generation, Cell, 144, 646, 10.1016/j.cell.2011.02.013 Vogelstein, 2015, The path to cancer –three strikes and you're out, N Engl J Med, 373, 1895, 10.1056/NEJMp1508811 Kandoth, 2013, Mutational landscape and significance across 12 major cancer types, Nature, 502, 333, 10.1038/nature12634 Pon, 2015, Driver and passenger mutations in cancer, Annu Rev Pathol, 10, 25, 10.1146/annurev-pathol-012414-040312 Haricharan, 2014, Somatic mutation load of estrogen receptor-positive breast tumors predicts overall survival: an analysis of genome sequence data, Breast Cancer Res Treat, 146, 211, 10.1007/s10549-014-2991-x Yang, 2016, New insights on PI3K/AKT pathway alterations and clinical outcomes in breast cancer, Cancer Treat Rev, 45, 87, 10.1016/j.ctrv.2016.03.004 Ciriello, 2015, Comprehensive molecular portraits of invasive lobular breast cancer, Cell, 163, 506, 10.1016/j.cell.2015.09.033 Desmedt, 2016, Genomic characterization of primary invasive lobular breast cancer, J Clin Oncol, 34, 1872, 10.1200/JCO.2015.64.0334 Amir, 2012, Prospective study evaluating the impact of tissue confirmation of metastatic disease in patients with breast cancer, J Clin Oncol, 30, 587, 10.1200/JCO.2010.33.5232 Navin, 2011, Tumour evolution inferred by single-cell sequencing, Nature, 472, 90, 10.1038/nature09807 Tang, 2015, Remarkable similarities of chromosomal rearrangements between primary human breast cancers and matched distant metastases as revealed by whole-genome sequencing, Oncotarget, 6, 37169, 10.18632/oncotarget.5951 Moelans, 2014, Genomic evolution from primary breast carcinoma to distant metastasis: few copy number changes of breast cancer related genes, Cancer Lett, 344, 138, 10.1016/j.canlet.2013.10.025 Meric-Bernstam, 2014, Concordance of genomic alterations between primary and recurrent breast cancer, Mol Cancer Ther, 13, 1382, 10.1158/1535-7163.MCT-13-0482 Shah, 2009, Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution, Nature, 461, 809, 10.1038/nature08489 Brastianos, 2015, Genomic characterization of brain metastases reveals branched evolution and potential therapeutic targets, Cancer Discov, 5, 1164, 10.1158/2159-8290.CD-15-0369 Andre, 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, 10.1016/S1470-2045(13)70611-9 Arnedos, 2015, Precision medicine for metastatic breast cancer–limitations and solutions, Nat Rev Clin Oncol, 12, 693, 10.1038/nrclinonc.2015.123 Massard, 2015, O3.7 * enriching phase I trials with molecular alterations: interim analysis of 708 patients enrolled in the MOSCATO 01, Ann Oncol, 26, ii4, 10.1093/annonc/mdv081.7 Arnedos, 2014, 351OGENOMIC and immune characterization of metastatic breast cancer (MBC): and ancillary study of the SAFIR01 & MOSCATO trials, Ann Oncol, 25, iv116, 10.1093/annonc/mdu329.1 Nik-Zainal, 2012, The life history of 21 breast cancers, Cell, 149, 994, 10.1016/j.cell.2012.04.023 Yates, 2015, Subclonal diversification of primary breast cancer revealed by multiregion sequencing, Nat Med, 21, 751, 10.1038/nm.3886 Desmedt, 2015, Uncovering the genomic heterogeneity of multifocal breast cancer, J Pathol, 236, 457, 10.1002/path.4540 Wang, 2014, Clonal evolution in breast cancer revealed by single nucleus genome sequencing, Nature, 512, 155, 10.1038/nature13600 Eirew, 2015, Dynamics of genomic clones in breast cancer patient xenografts at single-cell resolution, Nature, 518, 422, 10.1038/nature13952 Dunn, 2002, Cancer immunoediting: from immunosurveillance to tumor escape, Nat Immunol, 3, 991, 10.1038/ni1102-991 Mittal, 2014, New insights into cancer immunoediting and its three component phases–elimination, equilibrium and escape, Curr Opin Immunol, 27, 16, 10.1016/j.coi.2014.01.004 Zitvogel, 2006, Cancer despite immunosurveillance: immunoselection and immunosubversion, Nat Rev Immunol, 6, 715, 10.1038/nri1936 Savas, 2016, Clinical relevance of host immunity in breast cancer: from TILs to the clinic, Nat Rev Clin Oncol, 13, 228, 10.1038/nrclinonc.2015.215 Loi, 2013, Prognostic and predictive value of tumor-infiltrating lymphocytes in a phase III randomized adjuvant breast cancer trial in node-positive breast cancer comparing the addition of docetaxel to doxorubicin with doxorubicin-based chemotherapy: BIG 02-98, J Clin Oncol, 31, 860, 10.1200/JCO.2011.41.0902 Adams, 2014, Prognostic value of tumor-infiltrating lymphocytes in triple-negative breast cancers from two phase III randomized adjuvant breast cancer trials: ECOG 2197 and ECOG 1199, J Clin Oncol, 32, 2959, 10.1200/JCO.2013.55.0491 Dieci, 2014, Prognostic value of tumor-infiltrating lymphocytes on residual disease after primary chemotherapy for triple-negative breast cancer: a retrospective multicenter study, Ann Oncol, 25, 611, 10.1093/annonc/mdt556 Loi, 2014, Tumor infiltrating lymphocytes are prognostic in triple negative breast cancer and predictive for trastuzumab benefit in early breast cancer: results from the FinHER trial, Ann Oncol, 25, 1544, 10.1093/annonc/mdu112 Loi, 2016, Abstract S1-03: pooled individual patient data analysis of stromal tumor infiltrating lymphocytes in primary triple negative breast cancer treated with anthracycline-based chemotherapy, Cancer Res, 76, S1-03, 10.1158/1538-7445.SABCS15-S1-03 Salgado, 2015, Tumor-infiltrating lymphocytes and associations with pathological complete response and event-free survival in HER2-positive early-stage breast cancer treated with lapatinib and trastuzumab: a secondary analysis of the NeoALTTO trial, JAMA Oncol, 1, 448, 10.1001/jamaoncol.2015.0830 West, 2011, Tumor-infiltrating lymphocytes predict response to anthracycline-based chemotherapy in estrogen receptor-negative breast cancer, Breast Cancer Res, 13, R126, 10.1186/bcr3072 Denkert, 2010, Tumor-associated lymphocytes as an independent predictor of response to neoadjuvant chemotherapy in breast cancer, J Clin Oncol, 28, 105, 10.1200/JCO.2009.23.7370 Denkert, 2015, Tumor-infiltrating lymphocytes and response to neoadjuvant chemotherapy with or without carboplatin in human epidermal growth factor receptor 2-positive and triple-negative primary breast cancers, J Clin Oncol, 33, 983, 10.1200/JCO.2014.58.1967 Issa-Nummer, 2013, Prospective validation of immunological infiltrate for prediction of response to neoadjuvant chemotherapy in HER2-negative breast cancer–a substudy of the neoadjuvant GeparQuinto trial, PLoS One, 8, e79775, 10.1371/journal.pone.0079775 Ali, 2014, Association between CD8+ T-cell infiltration and breast cancer survival in 12,439 patients, Ann Oncol, 25, 1536, 10.1093/annonc/mdu191 Dieci, 2015, Prognostic and predictive value of tumor-infiltrating lymphocytes in two phase III randomized adjuvant breast cancer trials, Ann Oncol, 26, 1698, 10.1093/annonc/mdv239 Lim, 2010, Transcriptome analyses of mouse and human mammary cell subpopulations reveal multiple conserved genes and pathways, Breast Cancer Res, 12, R21, 10.1186/bcr2560 Dieci, 2016, The immune system and hormone-receptor positive breast cancer: is it really a dead end?, Cancer Treat Rev, 46, 9, 10.1016/j.ctrv.2016.03.011 Nalbandian, 2005, The selective estrogen receptor modulators, tamoxifen and raloxifene, impair dendritic cell differentiation and activation, J Immunol, 175, 2666, 10.4049/jimmunol.175.4.2666 Svensson, 2015, CCL2 and CCL5 are novel therapeutic targets for estrogen-dependent breast cancer, Clin Cancer Res, 21, 3794, 10.1158/1078-0432.CCR-15-0204 Joffroy, 2010, Antiestrogens induce transforming growth factor beta-mediated immunosuppression in breast cancer, Cancer Res, 70, 1314, 10.1158/0008-5472.CAN-09-3292 Chan, 2012, Int J Biol Markers, 27, e295, 10.5301/JBM.2012.10439 Generali, 2009, Immunomodulation of FOXP3+ regulatory T cells by the aromatase inhibitor letrozole in breast cancer patients, Clin Cancer Res, 15, 1046, 10.1158/1078-0432.CCR-08-1507 Salgado, 2015, The evaluation of tumor-infiltrating lymphocytes (TILs) in breast cancer: recommendations by an International TILs Working Group 2014, Ann Oncol, 26, 259, 10.1093/annonc/mdu450 Galluzzi, 2015, Immunological effects of conventional chemotherapy and targeted anticancer agents, Cancer Cell, 28, 690, 10.1016/j.ccell.2015.10.012 Dadmarz, 1995, CD4+ T lymphocytes infiltrating human breast cancer recognise autologous tumor in an MHC-class-II restricted fashion, Cancer Immunol Immunother, 40, 1 Matsushita, 2012, Cancer exome analysis reveals a T-cell-dependent mechanism of cancer immunoediting, Nature, 482, 400, 10.1038/nature10755 Rooney, 2015, Molecular and genetic properties of tumors associated with local immune cytolytic activity, Cell, 160, 48, 10.1016/j.cell.2014.12.033 Alexandrov, 2013, Signatures of mutational processes in human cancer, Nature, 500, 415, 10.1038/nature12477 Vogelstein, 2013, Cancer genome landscapes, Science, 339, 1546, 10.1126/science.1235122 Hodi, 2010, Improved survival with ipilimumab in patients with metastatic melanoma, N Engl J Med, 363, 711, 10.1056/NEJMoa1003466 Robert, 2015, Nivolumab in previously untreated melanoma without BRAF mutation, N Engl J Med, 372, 320, 10.1056/NEJMoa1412082 Robert, 2015, Pembrolizumab versus ipilimumab in advanced melanoma, N Engl J Med, 372, 2521, 10.1056/NEJMoa1503093 Borghaei, 2015, Nivolumab versus docetaxel in advanced nonsquamous non-small-cell lung cancer, N Engl J Med, 373, 1627, 10.1056/NEJMoa1507643 Brahmer, 2015, Nivolumab versus docetaxel in advanced squamous-cell non-small-cell lung cancer, N Engl J Med, 373, 123, 10.1056/NEJMoa1504627 Le, 2015, PD-1 blockade in tumors with mismatch-repair deficiency, N Engl J Med, 372, 2509, 10.1056/NEJMoa1500596 Budczies, 2015, Classical pathology and mutational load of breast cancer - integration of two worlds, J Pathol Clin Res, 1, 225, 10.1002/cjp2.25 Nanda, 2016, Pembrolizumab in patients with advanced triple-negative breast cancer: phase Ib KEYNOTE-012 study, J Clin Oncol, 34, 2460, 10.1200/JCO.2015.64.8931 Rugo, 2016, Abstract S5-07: Preliminary efficacy and safety of pembrolizumab (MK-3475) in patients with PD-L1–positive, estrogen receptor-positive (ER+)/HER2-negative advanced breast cancer enrolled in KEYNOTE-028, Cancer Res, 76, S5-07, 10.1158/1538-7445.SABCS15-S5-07 Majewski, 2015, PIK3CA mutations are associated with decreased benefit to neoadjuvant human epidermal growth factor receptor 2-targeted therapies in breast cancer, J Clin Oncol, 33, 1334, 10.1200/JCO.2014.55.2158 Stagg, 2011, Anti-ErbB-2 mAb therapy requires type I and II interferons and synergizes with anti-PD-1 or anti-CD137 mAb therapy, Proc Natl Acad Sci U S A, 108, 7142, 10.1073/pnas.1016569108 Akbay, 2013, Activation of the PD-1 pathway contributes to immune escape in EGFR-driven lung tumors, Cancer Discov, 3, 1355, 10.1158/2159-8290.CD-13-0310 D'Incecco, 2015, PD-1 and PD-L1 expression in molecularly selected non-small-cell lung cancer patients, Br J Cancer, 112, 95, 10.1038/bjc.2014.555 Parsa, 2007, Loss of tumor suppressor PTEN function increases B7-H1 expression and immunoresistance in glioma, Nat Med, 13, 84, 10.1038/nm1517 Balachandran, 2011, Imatinib potentiates antitumor T cell responses in gastrointestinal stromal tumor through the inhibition of Ido, Nat Med, 17, 1094, 10.1038/nm.2438 Nik-Zainal, 2012, Mutational processes molding the genomes of 21 breast cancers, Cell, 149, 979, 10.1016/j.cell.2012.04.024 Audeh, 2016, Abstract P4-04-01: PDL-1 expression in primary breast cancers with germline mutations in BRCA 1 and 2, Cancer Research, 76 Castle, 2012, Exploiting the mutanome for tumor vaccination, Cancer Res, 72, 1081, 10.1158/0008-5472.CAN-11-3722 Robbins, 2013, Mining exomic sequencing data to identify mutated antigens recognized by adoptively transferred tumor-reactive T cells, Nat Med, 19, 747, 10.1038/nm.3161 Wick, 2014, Surveillance of the tumor mutanome by T cells during progression from primary to recurrent ovarian cancer, Clin Cancer Res, 20, 1125, 10.1158/1078-0432.CCR-13-2147 van Rooij, 2013, Tumor exome analysis reveals neoantigen-specific T-cell reactivity in an ipilimumab-responsive melanoma, J Clin Oncol, 31, e439, 10.1200/JCO.2012.47.7521 Snyder, 2014, Genetic basis for clinical response to CTLA-4 blockade in melanoma, N Engl J Med, 371, 2189, 10.1056/NEJMoa1406498 Rizvi, 2015, Cancer immunology. Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer, Science, 348, 124, 10.1126/science.aaa1348 Brown, 2014, Neo-antigens predicted by tumor genome meta-analysis correlate with increased patient survival, Genome Res, 24, 743, 10.1101/gr.165985.113 Rajasagi, 2014, Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemia, Blood, 124, 453, 10.1182/blood-2014-04-567933 McGranahan, 2016, Clonal neoantigens elicit T cell immunoreactivity and sensitivity to immune checkpoint blockade, Science, 351, 1463, 10.1126/science.aaf1490 Segal, 2008, Epitope landscape in breast and colorectal cancer, Cancer Res, 68, 889, 10.1158/0008-5472.CAN-07-3095 Heemskerk, 2013, The cancer antigenome, EMBO J, 32, 194, 10.1038/emboj.2012.333 van der Burg, 2016, Vaccines for established cancer: overcoming the challenges posed by immune evasion, Nat Rev Cancer, 16, 219, 10.1038/nrc.2016.16 Apetoh, 2007, Toll-like receptor 4-dependent contribution of the immune system to anticancer chemotherapy and radiotherapy, Nat Med, 13, 1050, 10.1038/nm1622 Demaria, 2001, Development of tumor-infiltrating lymphocytes in breast cancer after neoadjuvant paclitaxel chemotherapy, Clin Cancer Res, 7, 3025 Ruffell, 2012, Leukocyte composition of human breast cancer, Proc Natl Acad Sci U S A, 109, 2796, 10.1073/pnas.1104303108 Ma, 2013, Anticancer chemotherapy-induced intratumoral recruitment and differentiation of antigen-presenting cells, Immunity, 38, 729, 10.1016/j.immuni.2013.03.003 Albert, 1998, Dendritic cells acquire antigen from apoptotic cells and induce class I-restricted CTLs, Nature, 392, 86, 10.1038/32183 Fonteneau, 2002, Interactions between dead cells and dendritic cells in the induction of antiviral CTL responses, Curr Opin Immunol, 14, 471, 10.1016/S0952-7915(02)00358-8 Loi, 2016, RAS/MAPK activation is associated with reduced tumor-infiltrating lymphocytes in triple-negative breast cancer: therapeutic cooperation between MEK and PD-1/PD-L1 immune checkpoint inhibitors, Clin Cancer Res, 22, 1499, 10.1158/1078-0432.CCR-15-1125 US National Library of Medicine, 2016 Musolino, 2008, Immunoglobulin G fragment C receptor polymorphisms and clinical efficacy of trastuzumab-based therapy in patients with HER-2/neu-positive metastatic breast cancer, J Clin Oncol, 26, 1789, 10.1200/JCO.2007.14.8957 Tamura, 2011, FcgammaR2A and 3A polymorphisms predict clinical outcome of trastuzumab in both neoadjuvant and metastatic settings in patients with HER2-positive breast cancer, Ann Oncol, 22, 1302, 10.1093/annonc/mdq585 Norton, 2014, Association studies of Fcgamma receptor polymorphisms with outcome in HER2+ breast cancer patients treated with trastuzumab in NCCTG (Alliance) Trial N9831, Cancer Immunol Res, 2, 962, 10.1158/2326-6066.CIR-14-0059 Park, 2010, The therapeutic effect of anti-HER2/neu antibody depends on both innate and adaptive immunity, Cancer Cell, 18, 160, 10.1016/j.ccr.2010.06.014 Gennari, 2004, Pilot study of the mechanism of action of preoperative trastuzumab in patients with primary operable breast tumors overexpressing HER2, Clin Cancer Res, 10, 5650, 10.1158/1078-0432.CCR-04-0225 Muller, 2015, Trastuzumab emtansine (T-DM1) renders HER2+ breast cancer highly susceptible to CTLA-4/PD-1 blockade, Sci Transl Med, 7, 315ra188, 10.1126/scitranslmed.aac4925 US National Library of Medicine, 2016 US National Library of Medicine, 2015 US National Library of Medicine, 2016 Rosenberg, 2015, Adoptive cell transfer as personalized immunotherapy for human cancer, Science, 348, 62, 10.1126/science.aaa4967 US National Library of Medicine, 2016 Mok, 2009, Gefitinib or carboplatin-paclitaxel in pulmonary adenocarcinoma, N Engl J Med, 361, 947, 10.1056/NEJMoa0810699 Chapman, 2011, Improved survival with vemurafenib in melanoma with BRAF V600E mutation, N Engl J Med, 364, 2507, 10.1056/NEJMoa1103782 Catenacci, 2015, Next-generation clinical trials: novel strategies to address the challenge of tumor molecular heterogeneity, Mol Oncol, 9, 967, 10.1016/j.molonc.2014.09.011 Barker, 2015, The tumour microenvironment after radiotherapy: mechanisms of resistance and recurrence, Nat Rev Cancer, 15, 409, 10.1038/nrc3958 Filatenkov, 2016, Disruption of evasive immune cell microenvironment in tumors reflects immunity induced by radiation therapy, OncoImmunology, 5, e1072673, 10.1080/2162402X.2015.1072673 US National Library of Medicine, 2016 US National Library of Medicine, 2016