Publications from VPCC investigators

A selection of relevant research materials from VPCC investigators.

Jason Cain

Dr Jason Cain

Sun, C X, Daniel P, Bradshaw G, Gough D, Cain J E … Firestein R (2023). Generation and multi-dimensional profiling of a childhood cancer cell line atlas defines new therapeutic opportunities. Cancer Cell 2023 Mar 22;S1535-6108(23)00080-6

Cochrane C.R., Vaghjiani V, Szczepny A, Jayasekara W.S.N, Gonzalez-Rajal A, Kikuchi K, McCaughan G.W., Burgess A, Gough D.J., Watkins D.N., Cain J.E. et al. (2020). Trp53 and Rb1 Regulate Autophagy and Ligand-Dependent Hedgehog Signaling. Journal of Clinical Investigation, 22:132513.

Marini K.D., Croucher D.R., McCloy R.A., Vaghjiani V, Gonzalez-Rajal A, Hastings J.F., Chin V, Szczepny A, Kostyrko K, Marquez C, Jayasekara W.S.N., Alamgeer M, Boolell V, Han J.Z.R., Waugh T, Lee H.C., Oakes S.R., Kumar B, Harrison C.A. … Cain, J.E. & Watkins D.N. (2018). Inhibition of activin signaling in lung adenocarcinoma increases the therapeutic index of platinum chemotherapy. Science Translational Medicine, 10(451).

Szczepny A, Carey K, McKenzie L, Jayasekara W.S.N, Rossello F, Gonzalez-Rajal A, McCaw A.S, Popovski D, Wang D, Sadler A.J., Mahar A, Russell P.A., Wright G, McCloy R.A., Garama D.J., Gough, D.J., Stephen B. Baylin, Burgess A, Cain, J.E. & Watkins D.N. (2018). The tumor suppressor Hic1 maintains chromosomal stability independent of Tp53. Oncogene.

Ramaswamy, V, Hielscher, T, Mack S.C., Lassaletta A, Lin T, Pajtler K.W., Jones D.T.W, Luu B, Cavalli F.M.G., Aldape K, Remke M, Mynarek M, Rutkowski S, Gururangan S, McLendon R.E., Lipp E.S., Dunham C, Hukin J, Eisenstat D.D., … Cain, J.E. … Taylor M.D. (2016). Therapeutic Impact of Cytoreductive Surgery and Irradiation of Posterior Fossa Ependymoma in the Molecular Era. Journal of Clinical Oncology, 34(21):2468-77.


    Prof Bruce Carleton

    Siemens A, Brooks B, Rassekh SR, Meijer AJM, van den Heuvel-Eibrink MM, Xu W, Loucks CM, Ross CJD, Carleton BC on behalf of the Canadian Pharmacogenomics Network for Drug Safety Consortium (2023). Role of cisplatin dose intensity and TPMT variation in the development of hearing loss in children. Ther Drug Monit. Mar 7. [Online ahead of print]. PMID: 36917731

    Siemens A, Rassekh SR, Ross CR, Carleton BC (2023). Development of a Dose-adjusted Polygenic Risk-model for Anthracycline-induced Cardiotoxicity. Ther Drug Monit. Jan 12. [Online ahead of print]. PMID: 36728273

    Barker CIS, Groeneweg G, Maitland-van der Zee AH, Rieder MJ, Hawcutt DB, Hubbard TJ, Swen JJ, Carleton BC (2022). Pharmacogenomic Testing in Paediatrics: Clinical Implementation Strategies. Br J Clin Pharmcol. Oct;88(10):4297-4310. PMID: 34907575

    Meijer AJM, Li KH, Brooks B, Clemens E, Ross CJ, Rassekh SR, Hoetink AE, van Grotel M, can den Heuvel-Eibrink MM, Carleton BC (2022). The cumulative incidence of cisplatin-induced hearing loss in young children is higher and develops at an early stage during therapy compared with older children based on 2052 audiological assessments. Cancer Jan 1;128(1):169-179. PMID:34490624

    Magdy T, Jiang Z, Jouni M, Fonoudi H, Lyra-Leite D, Jung G, Romero-Tejeda M, Kuo HH, Fetterman KA, Gharib M, Burmeister BT, Zhao M, Sapkota Y, Ross CJ, Carleton BC, Bernstein D, Burridge PW (2021). RARG variant predictive of doxorubicin-induced cardiotoxicity identifies a cardioprotective therapy. Cell Stem Cell. Dec 2;28(12):2076-2089. PMID: 34525346

    Magdy T, Jouni M, Kuo HH, Weddle CJ, Lyra-Leite D, Fonoudi H, Romero-Tejeda M, Gharib M, Javed H, Fajardo G, Ross CJD, Carleton BC, Bernstein D, Burridge PW (2022). Identification of Drug Transporter Genomic Variants and Inhibitors that Protect Against Doxorubicin-Induced Cardiotoxicity. Circulation. Jan 25;145(4):279-294. PMID: 34874743

    Bruse Carelton

    A/Prof Rachel Conyers

    Foulkes, S, Costello B.T., Howden E.J., Janssens K, Dillon H, Toro C, Claus P, Fraser S.F., Daly R.M., Elliott D.A., Conyers R, La Gerche A. (2020). Exercise CMR reveals reduced cardiac reserve in paediatric cancer survivors with impaired cardiopulmonary fitness. Journal of Cardiac Magnetic Resonance Imaging, 22(1):64.

    McOwan, T.N., Craig L.A., Tripdayonis A, Karavendzas K, Cheung M.M., Porrello E.R., Conyers R, Elliott D.A. (2020). Evaluating anthracycline associated single nucleotide polymorphisms in a paediatric cohort with early onset cardiomyopathy. Cardio-Oncology, 6(5).

    Tenzin, G, Sepulveda F.E., Khuong-Quang D-A, Pratt J, Valera E.T., Garrigue A, Kelso S, Sicheri F, Mikael L.G., Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J … Conyers, R … Jabado N. (2019). Germline HAVCR2 mutations altering TIM-3 characterise subcutaneous panniculitis-like T cell Lymphoma with haemophagocytic lymphohistiocytosis. Nature Genetics, 50(12):1650-1657. Impact Factor 27.15, Citation 19. Breakthrough study identifying TIM-3 as genetic variant predisposing patients with PLTCL to HLH

    Conyers, R., Devaraja S, Elliott, D. (2018). Systematic Review of Pharmacogenomics and Adverse Drug reactions in Paediatric Oncology Patients. Pediatric Blood & Cancer, 65(4):e26937

    Tripaydonis, A, Conyers, R., Elliott, D.A. (2018). Pediatric Anthracycline induced Cardiotoxicity: Mechanisms, Pharmacogenomics and Pluripotent Stem-Cell Modelling. Clinical Pharmacology & Therapeutics, 105(3):614-624.

      Prof Roger Daly

      Chen Z, Zhao P, Li F, Leier A, Marquez-Lago TT, Wang Y, Webb GI, Smith AI, Daly RJ*, Chou KC*, Song J*. iFeature: a Python package and web server for features extraction and selection from protein and peptide sequences.  Bioinformatics. 2018 Jul 15;34(14):2499-2502.

      Hou J, Nguyen EV, Surudoi M, Roy MJ, Patel O, Lucet IS, Ma X, Daly RJ. Distinct PEAK3 interactors and outputs expand the signaling potential of the PEAK pseudokinase family. SCI Signal. 2022 Feb 22;15(722):eabj3554.

      Yang X, Cruz MI, Nguyen EV, Huang C, Schittenhelm RB, Luu J, Cowley KJ, Shin SY, Nguyen LK, Lim Kam Sian TCC, Clark KC, Simpson KJ, Ma X, Daly RJ. The pseudokinase NRBP1 activates Rac1/Cdc42 via P-Rex1 to drive oncogenic signalling in triple-negative breast cancer. Oncogene. 2023 Mar;42(11):833-847

      Nguyen EV, Pereira BA, Lawrence MG, Ma X, Rebello RJ, Chan H, Niranjan B, Wu Y, Ellem S, Guan X, Wu J, Skhinas JN, Cox TR, Risbridger GP, Taylor RA, Lister NL, Daly RJ. Proteomic Profiling of Human Prostate Cancer-associated Fibroblasts (CAF) Reveals LOXL2-dependent Regulation of the Tumor Microenvironment. Mol Cell Proteomics. 2019 Jul;18(7):1410-1427.

      Ma X, Zhang L, Song J, Nguyen E, Lee R.S., Rodgers S.J., Li F., Huang C, Schittenhelm R.B., Chan H, Chheang C, Wu J, Brown K.K., Mitchell C.A., Simpson K.J.,  Daly RJ et al (2019). Characterization of the Src-regulated kinome identifies SGK1 as a key mediator of Src-induced transformation. Nat Commun. Jan 17;10(1):296.

      Fleuren EDG, Vlenterie M, van der Graaf W.T.A, Hillebrandt-Roeffen M.H.S, Blackburn J, Ma X, Chan H, Magias M.C., van Erp A, van Houdt L, Cebeci S.A.S, van de Ven A, Flucke U.E, Heyer E.E, Thomas D.M, Lord C.J, Marini K.D, Vaghjiani V, Mercer T.R. … Daly RJ et al (2017). Phosphoproteomic Profiling Reveals ALK and MET as Novel Actionable Targets across Synovial Sarcoma Subtypes. Cancer Res. 217 Aug 15;77(16):4279-4292.

      Patel O, Griffin M.D.W., Panjikar S, Dai W, Ma X, Chan H, Zheng C, Kropp A, Murphy J.M., Daly RJ, Lucet IS (2017). Structure of SgK223 pseudokinase reveals novel mechanisms of homotypic and heterotypic association. Nat Commun. Oct 27;8(1):1157.

      Tactacan CM, Phua YW, Liu L, Zhang L, Humphrey ES, Cowley M, Pinese M, Biankin AV, Daly RJ. The pseudokinase SgK223 promotes invasion of pancreatic ductal epithelial cells through JAK1/Stat3 signaling.  Mol Cancer. 2015 Jul 29;14:139

      Belle L*, Ali N*, Lonic A, Li X, Paltridge JL, Roslan S, Herrmann D, Conway JR, Gehling FK, Bert AG, Crocker LA, Tsykin A, Farshid G, Goodall GJ, Timpson P, Daly RJ, Khew-Goodall Y. The tyrosine phosphatase PTPN14 (Pez) inhibits metastasis by altering protein trafficking.  Sci Signal. 2015 Feb 17;8(364):ra18.

      Fleuren ED, Zhang L, Wu J, Daly RJ. The kinome ‘at large’ in cancer. Nat Rev Cancer. 2016 Feb;16(2):83-98. .

      Prof Tracey Danaher

      Stuart B, Danaher T.S., Awdish R, Berry L. (2019). Finding Hope and Healing When Cure is Not Possible. Mayo Clinic Proceedings, 94(4): 677-685.

      Berry L.L, Deming K.A., Danaher T.S., et al. (2018). Improving Nonclinical and Clinical-Support Services: Lessons from Oncology. Mayo Clinic Proceedings: Innovations, Quality and Outcomes, 2(3):207-217.

      Berry L.L, Danaher T.S., Beckham D, Awdish R.L.A, Mate, K. S. (2017). When Patients and Their Families Feel like Hostages to Health Care. Mayo Clinic Proceedings, 9(9):1373–1381.

      Berry L.L, Danaher T.S. Chapman R. A, Awdish, R.L. (2017). Role of Kindness in Cancer Care. Journal of Oncology Practice, 13(11):744-750.

      Danaher, T.S, Brand S.R., Pickard, L.S.S, Mack J.W., Berry L.L. (2017). How a Child with Cancer Moved from Vulnerability to Resilience. Journal of Clinical Oncology, 35(27):3169-3171.

        A/Prof Peter Downie AM

        De Luca CR, Mulraney M, Anderson V, Downie P, Ma W, McCarthy MC (2022). Behavioral and Emotional Functioning of Children and Adolescents at the End of Treatment for Acute Lymphoblastic Leukemia Compared to Healthy Peers. J Clin Psychol Med Settings. Jun; 29(2):421-431

        Chong WC, Jayasekera WSN, Vaghijani VG, Parackal S, Sun C, Popovoski D, Algar EM, Firestein R, Wood PJ, Khan S, Huang A, Ashley DM, Downie P, Cain JE. (2021). Atypical teratoid rhabdoid tumours are susceptible to Panobinostat-mediated differentiation therapy. Cancers (Basel). 2021. Oct 14;13(20):5145 (pp 1-19)

        Zhou T, Khan S, Downie P, Cain JE (2019). Diffuse intrinsic pontine gliomas: translation of genomic knowledge to clinical practice.. OBM Neurobiology

        Muscat A, Popovski D, Jayasekara WS, Rossello FJ, Ferguson M, Marini KD, Alamgeer M, Algar EM, Downie P, Watkins DN, Cain JE, Ashley DM (2016). Low-dose histone deacetylase inhibitor treatment leads to tumour growth arrest and multi-lineage differentiation of malignant rhabdoid tumours. Clin Cancer Res. 2016 Feb 26. [Epub ahead of print]

        Pritchard-Jones K, Pieters R, Reaman GH, Hjorth L, Downie P, Calaminus G, Naafs-Wilstra MC, Steliarova-Foucher E (2013). Sustaining innovation and improvement in the treatment of childhood cancer: lessons from high-income countries. Lancet Oncol. 2013 Mar;14(3):e95-e103. Epub 2013 Feb 20

        Prof David Eisenstat

        Prof David Eisenstat

        Leung RF, George A, Roussel E, Faux M, Wigle JT, Eisenstat DD (2022). Genetic regulation of vertebrate forebrain development by homeobox genes. Frontiers in Neuroscience; 16; 843794.

        Maayah ZH, …., Eisenstat DD, Dyck JRB. Resveratrol reduces cardiac NLRP3-inflammasome activation and systemic inflammation to lessen doxorubicin-induced cardiotoxicity. FEBS Lett. 2021;595:1681-95.

        Wu H, Wang B, Armstrong SR, Abuetabh Y, Leng S, Roa WHY, Atfi A, Marchese A, Wilson B, Sergi C, Flores ER, Eisenstat DD, Leng RP (2021). Hsp70 acts as a fine-switch that controls E3 Ligase CHIP-mediated TAp63 and deltaNp63 ubiquitination and degradation. Nucleic Acids Research; 49(5):2740-2758.

        Merchant TE, Bendel AE, Sabin ND, Burger PC, Shaw DW, Chang E, Wu S, Zhou T, Eisenstat DD, Foreman NK, Fuller CE, Anderson ET, Hukin J, Lau CC, Pollack IF, Laningham FH, Lustig RH, Van Soelen ML, Armstrong FD, Handler MH, Williams-Hughes C, Kessel S, Kocak M, Ellison DW, Ramaswamy V (2019). Phase II trial of conformal radiation therapy for pediatric patients with localized ependymoma, chemotherapy before second surgery for incompletely resected ependymoma, and observation for completely resected, classic, supratentorial ependymoma. J Clin Oncol; 37(12):974-98.

        Le TN, …, Eisenstat DD. GABAergic interneuron differentiation in the basal forebrain is mediated through direct regulation of GAD isoforms by DLX homeobox transcription…. J Neurosci, 2017, 37:8816-29.

        Zhang Q, Zagozewski JL, …, Eisenstat DD. Regulation of Brn3b by DLX1 and DLX2 is required for retinal ganglion cell differentiation in the vertebrate retina. Development, 2017, 144:1698-1711.

        Lassaletta A, Zapotocky M, …, Eisenstat D, …, Hawkins C, Tabori U. Therapeutic and Prognostic Implications of BRAF V600E in Pediatric Low-Grade Gliomas. J Clin Oncol. 2017;35(25):2934-2941.

        Panwalkar P, …, Eisenstat D, …, Venneti S. Immunohistochemical analysis of H3K27me3 demonstrates global reduction in group-A childhood posterior fossa ependymoma …. Acta Neuropathol. 2017;134:705-14.

        Torchia J, …, Eisenstat DD, …, Jabado N, Huang A. Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors. Cancer Cell. 2016;30(6):891-908.

        Vanan MI, Eisenstat DD. DIPG in Children – What Can We Learn from the Past? Frontiers in Oncol. 2015 Oct 21;5:237.


        A/Prof Paul Ekert

        Wong, M, Mayoh C, Lau L.M.S, Khuong-Quang D-A, Pinese M, Kumar A, Barahona P, Wilkie E.E., Sullivan P, Bowen-James R, Syed M, Martincorena I, Abascal F, Sherstyuk A, Bolanos N.A., Baber J, Priestley P, Dolman E.M.E, Fleuren E.D.G. … Ekert, P.G. & Cowley M.J. (2020). Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk paediatric cancer. Nature Medicine. DOI:10.1038/s41591-020-1072-4.

        Hansen, J. K.,  Davidson N.M., Bjelosevic S, Morrish E, Brennan M.S., Oshlack A, Johnstone R.W. Brumatti G, Khaw S.L., Ekert, P.G., et al. (2020). MLL-TFE3: a novel and aggressive KMT2A fusion identified in infant leukaemia. Blood Advances, 4:4918-4923.

        Brown L, Lonsdale A, Zhu A Davidson N.M., Schmidt B, Hawkins A, Wallach E, Martin M, Mechinaud F.M., Khaw S.L., Bartolo R.C., Ludlow L.E.A., Challis J, Brooks I, Petrovic V, Venn N.C., Sutton R, Majewski I.J., Oshlack A,  Ekert, P.G. (2020). The application of RNA sequencing for the diagnosis and genomic classification of pediatric acute lymphoblastic leukemia. Blood Advances, 4: 930-942.

        Khuong-Quang D.A,  Brown L.M., Wong M, Mayoh C, Sexton-Oates A, Kumar A, Pinese M, Nagabushan S, Lau L, Ludlow L.E., Gifford A.J., Rodriguez M, Desai J, Fox S.B., Haber M, Ziegler D.S., Hansford J.R., Marshall G.M., Cowley M.J., Ekert, P.G., et al. (2020). Recurrent SPECC1L-NTRK fusions in paediatric sarcoma and brain tumours. Molecular Case Reports, 6(6). doi:10.1101/mcs.a005710.

        Narayan N, Morenos L, Phipson B, Willis S.N., Brumatti G, Eggers S, Lalaoui N, Brown L.M., Kosasih H.J., Bartolo R.C., Zhou L, Catchpoole D, Saffery R, Oshlack A, Goodall G.J., Ekert, P.G., et al. (2016). Functionally distinct roles for different miR-155 expression levels through contrasting effects on gene expression, in acute myeloid leukemia. Leukemia. doi:10.1038/leu.2016.279.


        Ron Firestein

        Prof Ron Firestein

        Sun CX, Daniel P, Bradshaw G, Shi H, Loi M, Chew N, Parackal S, Tsui V, Liang Y … Fletcher JI, Ekert PG, Dumevska B, Ziegler DS, Tsoli M, Syed Sulaiman NF, Loh AHP, Low SYY, Sweet-Cordero EA, Monje M, Resnick A, Jones C, Downie P, Williams B, Rosenbluh J, Gough D, Cain JE, Firestein R. Generation and Multi-Dimensional Profiling of a Childhood Cancer Cell Line Atlas Defines New Therapeutic Opportunities. Cancer Cell 41:660-677, 2023. 

        Sooraj D, Sun C, Doan A, Garama DJ, Dannappel MV, Zhu D, Chua HK, Mahara S, Wan Hassan WA, Tay YK, Guanizo A, Croagh D, Prodanovic Z, Gough DJ, Wan C, Firestein R. MED12 and BRD4 Cooperate to Sustain Cancer Growth Upon Loss of Mediator Kinase. Mol Cell 82:123-139.e7, 2022. 

        Wan C, Mahara S, Sun C, Doan A, Chua H, Xu D, Bian J, Li Y, Sooraj D, Cierpicki T, Grembecka J, Firestein R. Genome-scale CRISPR-Cas9 screen of Wnt/β-catenin signalling identifies therapeutic targets for Colorectal Cancer. Sci Adv. 7:eabf2567, 2021. 

        McCleland ML, Mesh K, Lorenzana E, Chopra VS, Segal E, Watanabe C, Haley B, Mayba O, Yaylaoglu M, Gnad F, Firestein R. CCAT1 is an enhancer-templated RNA that predicts BET sensitivity in colorectal cancer. J Clin Invest 126:639-52, 2016. 

        Adler AS, McCleland ML, Yee S, Yaylaoglu M, Hussain S, Cosino E, Quinones G, Modrusan Z, Seshagiri S, Torres E, Chopra VS, Haley B, Zhang Z, Blackwood EM, Singh M, Junttila M, Stephan JP, Liu J, Pau G, Fearon ER, Jiang Z, Firestein R. An integrative analysis of colon cancer identifies an essential function for PRPF6 in tumor growth . Genes Dev. 28:1068-84, 2014. 

        Liu J, McCleland M, Stawiski EW, Gnad F, Mayba O, Haverty PM, Durinck S, Chen YJ, Klijn C, Jhunjhunwala S, Lawrence M, Liu H, Wan Y, Chopra V, Yaylaoglu MB, Yuan W, Ha C, Gilbert HN, Reeder J, Pau G, Stinson J, Stern HM, Manning G, Wu TD, Neve RM, de Sauvage FJ, Modrusan Z, Seshagiri S, Firestein R*, Zhang Z*. Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer. Nature Communication, 5:3830, 2014. *Co-corresponding author. 

        Dannappel MV, Zhu D, Sun X, Chua HK, Poppelaars M, Suehiro M, Khadka S, Lim Kam Sian TC, Sooraj D, Loi M, Gao H, Croagh D, Daly RJ, Faridi P, Boyer T, Firestein R. CDK8 and CDK19 regulate intestinal differentiation and homeostasis via the chromatin remodeling complex SWI/SNF. J Clin Invest 132(20):e158593, 2022. 

        McCleland M, Sookup TM, Liu SD, Esensten JH, de Sousa e Melo F, Yaylaoglu M, Warming S, Roose-Girma M, Firestein R. Cdk8 deletion in the ApcMin murine tumor model represses EZH2 activity and accelerates tumorigenesis. J Path 237:508-19, 2015. 

        Asundi J, Crocker L, Tremayne J, Chang P, Sakanaka C, Tanguay J, Spencer S, Chalasani S, Luis E, Gascoigne K, Desai R, Raja R, Friedman BA, Haverty PM, Polakis P, Firestein R. An Antibody-Drug Conjugate Directed against Lymphocyte Antigen 6 Complex, Locus E (LY6E) Provides Robust Tumor Killing in a Wide Range of Solid Tumor Malignancies. Clin Cancer Res. 21:3252-62, 2015. 

        Storm EE, Durinck S, de Sousa e Melo F, Tremayne J, Kljavin N, Tan C, Ye X, Chiu C, Pham T, Hongo JA, Bainbridge T, Firestein R, Blackwood E, Metcalfe C, Stawiski EW, Yauch RL, Wu Y, de Sauvage FJ. Targeting PTPRK-RSPO3 colon tumours promotes differentiation and loss of stem-cell function. Nature 529:97-100, 2016. 


          Prof Jordan Hansford

          Capper D, Jones DTW, Sill M, Hovestadt V, Schrimpf D, Sturm D, Koelsche C, Sahm F, Chavez L, Reuss DE, Kratz A, Wefers AK, Huang K, Pajtler KW, Schweizer L, Stichel D, Olar A, Engel NW, Lindenberg K, Harter PN, Braczynski AK, Plate KH, Dohmen H, Garvalov BK, Coras R, Hölsken A, Hewer E, Bewerunge-Hudler M, Schick M, Fischer R, Beschorner R, Schittenhelm J, Staszewski O, Wani K, Varlet P, Pages M, Temming P, Lohmann D, Selt F, Witt H, Milde T, Witt O, Aronica E, Giangaspero F, Rushing E, Scheurlen W, Geisenberger C, Rodriguez FJ, Becker A, Preusser M, Haberler C, Bjerkvig R, Cryan J, Farrell M, Deckert M, Hench J, Frank S, Serrano J, Kannan K, Tsirigos A, Brück W, Hofer S, Brehmer S, Seiz-Rosenhagen M, Hänggi D, Hans V, Rozsnoki S, Hansford JR … Korshunov A, von Deimling A, Pfister SM (2018) DNA methylation-based classification of central nervous system tumours Nature 555 (7697), 469-47416672018

          Bouffet E, Larouche V, Campbell BB, Merico D, de Borja R, Aronson M, Durno C, Krueger J, Cabric V, Ramaswamy V, Zhukova N, Mason G, Farah R, Afzal S, Yalon M, Rechavi G, Magimairajan V, Walsh MF, Constantini S, Dvir R, Elhasid R, Reddy A, Osborn M, Sullivan M, Hansford J, Dodgshun A, Klauber-Demore N, Peterson L, Patel S, Lindhorst S, Atkinson J, Cohen Z, Laframboise R, Dirks P, Taylor M, Malkin D, Albrecht S, Dudley RW, Jabado N, Hawkins CE, Shlien A, Tabori U (2016) Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency Journal of clinical oncology 34 (19), 2206-22117222016

          Kratz CP, Achatz MI, Brugières L, Frebourg T, Garber JE, Greer MC, Hansford JR, Janeway KA, Kohlmann WK, McGee R, Mullighan CG, Onel K, Pajtler KW, Pfister SM, Savage SA, Schiffman JD, Schneider KA, Strong LC, Evans DGR, Wasserman JD, Villani A, Malkin D (2017) Cancer screening recommendations for individuals with Li-Fraumeni syndrome Clinical Cancer Research 23 (11), e38-e453762017

          Hansford JR, Mulligan LM (2000). Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis Journal of Medical Genetics 37 (11), 817-8273112000

          Pajtler KW, Mack SC, Ramaswamy V, Smith CA, Witt H, Smith A, Hansford JR … Bouffet E, Pfister SM, Taylor MD (2016). The current consensus on the clinical management of intracranial ependymoma and its distinct molecular variants Acta neuropathologica 133, 5-122692017

          A/Prof Misty Jenkins

          Reis ALM, Rapadas M, Hammond JM, Gamaarachchi, Stevanovski I, Kumaheri MA, Chintalaphani SR, Dissanayake DSB, Siggs OW, Hewitt AW, Llamas B, Brown A, Baynam G, Mann GJ, McMorran BJ, Easteal S, Hermes A, Jenkins MR, The National Centre for Indigenous Genomics, Patel H and Deveson IW. 2023. The landscape of genomics structural variation in Indigenous Australians. Nature. Accepted Nov 7th. In Press.

          Dewdney B, Jenkins MR, Best SA, Freytag S, Prasad K, Holst J, Endersby R and Johns TG. 2023. From signalling pathways to targeted therapies: Unravelling glioblastoma’s secrets and harnessing two decades of progress. Signal Transduction and Targeted Therapy. Oct 20;8(1):400. IF 38. PMID: 37857607.

          Silcocks, M, Farlow A, Hermes A, Tsambos G, Patel H, Huebner S, Baynam G, Jenkins MR, Vukcevic D, Easteal S, Leslie S and The National Centre for Indigenous Genomics. 2023. Indigenous Australian genomes show deep structure and rich novel variation. Nature. Accepted Oct. In Press.

          Wang SS, Pandey K, Watson KA, Abbott RC, Mifsud NA, Gracey FM, Ramarathinam SH, Cross RS, Purcell AW & Jenkins MR. 2023. Endogenous HLA-A2:01 restricted antigen derived from H3.3K27M is insufficient for effective immune-targeting of Diffuse Midline Glioma. Molecular Therapy- Oncolytics. PMID:37674626.

          Pandey K, Wang SS, Mifsud NA, Faridi P, Davenport AJ, Webb AI, Sandow JJ, Ayala R, Monje M, Cross RS, Ramarathinam SH, *Jenkins MR & *Purcell AW. 2023. A combined immunopeptidomics, proteomics and cell surface proteomics approach to identify immunotherapy targets for diffuse intrinsic pontine glioma. Frontiers in Oncology. Aug 11;13:1192448. PMID: 37637064.

          Wang SS, Davenport AJ, Iliopoulos M, Hughes-Parry HE, Watson KA, Arcucci V, Maulazzani M, Eisenstat DD, Hansford JR, Cross RS and Jenkins MR. 2023. HER2 chimeric antigen receptor T cell immunotherapy is an effective treatment for diffuse intrinsic pontine glioma. 2023 May 4; 5(1):vdad024. 2023; NeuroOncology Advances. PMID: 37152812.

          Prasad K, Cross RS and Jenkins MR. 2023. Synthetic biology, genetic circuits and machine learning: A new age of cancer therapy. Mol Oncol. 1st April 2023. PMID: 37002698.

          Abbott RC, Iliopoulos M, Watson KA, Arcucci V, Go M, Hughes-Perry HE, Smith P, Call MJ, Cross RS and Jenkins MR. 2023. Human EGFRvIII chimeric antigen receptor T cells demonstrate favorable safety profile and curative responses in orthotopic glioblastoma. Clin Trans Immunol. 2023 Mar 5;12(3):e1440. PMID: 36890859.

          Moffet JJD, Moore Z, Oliver S, Towers T,Jenkins MR, Freytag S, Whittle JR and Best SA. 2023. Flow cytometry identification of glial cell types in the murine brain. Methods in Molecular Biology. March 2023; 2691:185-198. PMID: 37355546.

          Richardson K, Keam SP, Zhu JJ, Meyran D, D’Souza C, Macdonald S, Campbell K, Robbins M, Bezman NA, Todd K, Quach H, Ritchie DS, Harrison SJ, Prince HM, Trapani JA, Jenkins MR, Beavis PA, Darcy PK, Neeson PJ. The efficacy of combination treatment with elotuzumab and lenalidomide is dependent on crosstalk between natural killer cells, monocytes and myeloma cells. Haematologica. 2023;108(1):83-97.

            A/Prof Maria McCarthy

            McCarthy M.C., De Abreu Lourenco R, McMillan L.J., Meshcheriakova E, Cao A, Gillam L. (2020). Finding Out What Matters in Decision-Making Related to Genomics and Personalized Medicine in Pediatric Oncology: Developing Attributes to Include in a Discrete Choice Experiment. The Patient-Patient-Centered Outcomes Research, 13:347-361.

            Muscara, F, McCarthy, M.C., Rayner M, Nicholson J.M., Dimovski A, McMillan L, Hearps S.J.C., Yamada J, Burke K, Walser R, Anderson V.A. (2020). Effect of an online group intervention for traumatic stress in parents of children with life-threatening illness: A randomized clinical trial. JAMA Network Open, 3(7):e208507.

            Garas A, McLean L.A., De Luca C.R., Downie P, McCarthy, M.C. (2019). Health-related quality of life in pediatric patients up to five years post-treatment completion for acute lymphoblastic leukemia: a systematic review. Supportive Care in Cancer, 27(11):4341-4351.

            Darling S, De Luca C, Anderson V, McCarthy M, Hearps S, Seal M.L. (2018). White matter microstructure and information processing at the completion of chemotherapy-only treatment for pediatric Acute Lymphoblastic Leukemia. Developmental Neuropsychology, 43(5):385- 402.

            McCarthy M.C., McNeil R, Drew S, Dunt D, Kosola S, Orme L, Sawyer S.M. (2016). Psychological distress and posttraumatic stress symptoms in adolescents and young adults with cancer and their parents. Journal Adolescent and Young Adult Oncology, 5(4):322-329.


            Prof Paul Neeson

            Meyran, D, Terry R.L., Zhu J.J., Haber M, Ziegler D.S., Ekert P.G., Trapani J.A, Darcy P.K., Neeson, P.J. (2021). Early-phenotype CAR-T cells for the treatment of pediatric cancers. Ann Oncol. S0923-7534(21)02506-0. doi: 10.1016/j.annonc.2021.07.018.

            D’Souza, C, Keam S.P., Aw Yeang H.X., Neeson M, Richardson K, Hsu A.K., Canfield R, Bezman N, Robbins M, Quach H, Ritchie D.S., Harrison S.J., Trapani J.A., Prince H.M., Beavis P.A., Darcy P.K.,  Neeson, P.J.. (2021). Myeloma natural killer cells are exhausted and have impaired regulation of activation. Haematologica, 106(9):2522-2526. doi: 10.3324/haematol.2020.277525.

            Keam S.P, Halse H, Nguyen T, Wang M, Van Kooten Losio N, Mitchell C, Caramia F, Byrne D.J., Haupt S, Ryland G, Darcy P.K., Sandhu S, Blombery P, Haupt Y, Williams S.G., Neeson, P.J. (2020). High dose-rate brachytherapy of localized prostate cancer converts tumors from cold to hot. J Immunother Cancer, 8(1):e000792. doi: 10.1136/jitc-2020-000792.

            Terry R.L, Meyran D, Ziergler D.S., Haber M, Ekert P.G., Trapani J.A., Neeson, P.J., et al. (2020). Immune profiling of pediatric solid tumors. J Clin Invest, 130(7):3391-3402. doi: 10.1172/JCI137181. PMID: 32538896.

            Savas, P, Virassamy B, Ye C, Salim A, Mintoff C.P., Caramia F, Salgado R, Byrne D.J., Teo Z.L., Dushyanthen S, Byrne A, Wein L, Luen S.J., Poliness C, Nightingale S.S., Skandarajah A.S., Gyorki D.E., Thornton C.M., Beavis P.A. …  Neeson, P.J. and Loi, S. (2018). Single-cell profiling of breast cancer T cells reveals a tissue-resident memory subset associated with improved prognosis. Nat Med, 24(7):986-993. doi: 10.1038/s41591-018-0078-7.

              A/Prof Sefi Rosenbluh

              Davies, R, Liu L, Taotao S, Tuano N, Chaturvedi R, Huang K.K., Itman C, Mandoli A, Qamra A, Hu C, Powell D, Daly R.J., Tan P Rosenbluh, J. (2021). CRISPRi enables isoform specific loss-of-function screens and identification of gastric cancer specific isoform dependencies. Genome Biology, 22(1):47.

              Li T, Kim A, Rosenbluh, J, Horn H, Greenfeld L, An D, Zimmer A, Liberzon A, Bistline J, Natoli T, Li Y, Tsherniak A, Narayan R, Subramanian A, Liefeld T, Wong N, Thompson D, Calvo S, Carr S. (2017). GeNets: A unified web platform for network-based analyses of genomic data. Nature Methods, 15(7):543-546.

              Rosenbluh, J. Xu H, Harrington W, Gill S, Wang X, Vazquez F, Root D.E., Tsherniak A, Hahn W.C.. (2017). Complementary information derived from CRISPR Cas9 mediated gene deletion and suppression. Nature Communications, 8: 15403.

              Rosenbluh, J, Mercer J, Shrestha Y, Oliver R, Tamayo P, Doench J.G., Tirosh I, Piccioni F, Hartenian E, Horn H, Fagbami L, Root D.E., Jaffe J, Lage K, Boehm J.S., Hahn W.C. (2016). Integrated genetic and proteomic interrogation of WNT/β-catenin cancer dependencies. Cell Systems, 3(3):302- 316.

              Kim J.W, Botvinnik O.B., Abudayyeh O, Birger C, Rosenbluh J, Shrestha Y, Abazeed M.E., Hammerman P.S., DiCara D,  Konieczkowski D.J., Johannessen C.M., Liberzon A, Alizad-Rahvar A.R., Alexe G, Aguirre A, Ghandi M, Greulich H, Vazquez F,  Weir B.A. … Tamayo P. (2016). Characterizing genomic alterations in cancer by complementary functional associations. Nature Biotechnology, 34(5):539-546.

              Prof Melissa Southey

              Breast Cancer Association Consortium, Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley K.A., Parsons M.T., Fortuno C, Wang Q, Bolla M.K., Dennis J, Keeman R, Alonso M.R., Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, … Southey, M.C. … Easton D.F. (2021). Breast Cancer Risk Genes – Association Analysis in More than 113,000 Women. N Engl J Med.

              Nguyen-Dumont T, MacInnis R.J., Steen J.A., Theys D, Tsimiklis H, Hammet F, Mahmoodi M, Pope B.J., Park D.J, Mahmood K, Severi G, Bolton D, Milne R.L., Giles G.G., Southey M.C., et al. (2020). Rare germline genetic variants and risk of aggressive prostate cancer. Int J Cancer, 147, (8), 2142-2149.

              Yang, X, Leslie G, Doroszuk A, Schneider S, Allen J, Decker B, Dunning A.M., Redman J, Scarth J, Plaskocinska I, Luccarini C, Shah M, Pooley K, Dorling L, Lee A, Adank M.A., Adlard J, Aittomäki K, Andrulis I.L. … Southey, M.C. … Tischkowitz M. (2020). Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol, 38, (7), 674-685.

              Joo, J.E., Dowty J.G., Milne R.L., Wong E.M., Dugué P-A, English D, Hopper J.L., Goldgar D.E., Giles G.G., Southey M.C, kConFab. (2018). Heritable DNA methylation marks associated with susceptibility to breast cancer. Nat Commun, 9(1): 867.

              Michailidou, K, Lindström S, Dennis J, Beesley J, Hui S, Kar S, Lemaçon A, Soucy P, Glubb D, Rostamianfar A, Bolla M.K., Wang Q, Tyrer J, Dicks E, Lee A, Wang Z, Allen J, Keeman R, Eilber U … Southey, M.C. … Easton, D.F. (2017). Association analysis identifies 65 new breast cancer risk loci. Nature, 551, (7678), 92-94.

                A/Prof Lee Wong

                Udugama M, Hii L, Garvie A, Cervini M, Vinod B, Chan F-L, Das P.P, Mann J.R., Collas P, Voon H.P.J., Wong L.H (2021). Mutations inhibiting KDM4B drive ALT activation in ATRX-mutated glioblastomas. Nature Communication, 12(1), 2584. PMID: 33972520.

                Voon H. P. J, Udugama M, Lin W, Hii L, Law R.H.P, Steer D.L., Das P.P., Mann J.R., Wong, L.H. (2018). Inhibition of a K9/K36 demethylase by an H3.3 point mutation found in paediatric glioblastoma. Nature Communications, 9(1), 3142. PMID: 30087349.

                Udugama M, Sanij E, Voon H.P.J., Son J, Hii L, Henson J.D., Chan F.L, Chang F.T.M, Liu Y, Pearson R.B., Kalitsis P, Mann J.R., Collas P, Hannan R.D., Wong, L.H. (2018). Ribosomal DNA copy loss and repeat instability in ATRX-mutated cancers. Proceedings of the National Academy of Sciences 115 (18), 4737-4742. PMID: 29669917.

                Voon, H.P. & Wong, L. H. (2016) New players in heterochromatin silencing: histone variant H3.3 and the ATRX/DAXX chaperone. Nucleic Acids Res, 44(4): 1496-1501. PMID: 26773061.

                Voon, H.P., Collas, P and Wong, L. H. (2016). Compromised heterochromatin promotes ALTernative lengthening of telomeres. Trends in Cancers, 2(3): 114-116. PMID: 28741530.