Ella Thompson

A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability

Lucy C Fox, Michelle Tan, Anna L Brown, Peer Arts, Ella Thompson, Georgina L Ryland, Jennifer Lickiss, Hamish S Scott, Nicola K Poplawski, Kerry Phillips, Neil A Came, Paul James, Stephen B Ting, David S Ritchie, Jeff Szer, Christopher N Hahn, Anthony Schwarer, Piers Blombery

Journal article  |  2020  |  British Journal of Haematology

Detection of an IGH-BRAF fusion in a patient with BRAF Val600Glu negative hairy cell leukemia

Ella R Thompson, Kenneth JC Lim, James A Kuzich, Michelle McBean, David Westerman, Constantine S Tam, Piers Blombery

Journal article  |  2020  |  Leukemia & Lymphoma

Multiple BCL2 mutations cooccurring with Gly101Val emerge in chronic lymphocytic leukemia progression on

Piers Blombery, Ella R Thompson, Nguyen Tamia, Richard W Birkinshaw, Jia-Nan Gong, Xiangting Chen, Michelle McBean, Rachel Thijssen, Thomas Conway, Mary Ann Anderson, John F Seymour, David A Westerman, Peter E Czabotar, David CS Huang, Andrew W Roberts

Journal article  |  2020  |  Blood

Utility of clinical comprehensive genomic characterisation for diagnostic categorisation in patients presenting with hypocellular bone marrow failure syndromes.

Piers Blombery, Lucy Fox, Georgina L Ryland, Ella R Thompson, Jennifer Lickiss, Michelle McBean, Satwica Yerneni, David Hughes, Anthea Greenway, Francoise Mechinaud, Erica M Wood, Graham J Lieschke, Jeff Szer, Pasquale Barbaro, John Roy, Joel Wight, Elly Lynch, Melissa Martyn, Clara Gaff, David Ritchie

Journal article  |  2020  |  Haematologica

Bone marrow failure (BMF) related to hypoplasia of haematopoietic elements in the bone marrow is a heterogeneous clinical entity w..

Severe chemotherapy toxicity in a 10-year-old with T-acute lymphoblastic lymphoma harboring biallelic FANCM variants

Georgina L Ryland, Lucy C Fox, Virginia Wootton, Ella R Thompson, Jennifer Lickiss, Alison H Trainer, Paddy Barbaro, Morag Whyte, David Ritchie, Piers Blombery

Journal article  |  2020  |  Leukemia & Lymphoma

Characterization of a novel venetoclax resistance mutation (BCL2 Phe104Ile) observed in follicular lymphoma

Piers Blombery, Richard W Birkinshaw, Tamia Nguyen, Jia-nan Gong, Ella R Thompson, Zhen Xu, David A Westerman, Peter E Czabotar, Michael Dickinson, David CS Huang, John F Seymour, Andrew W Roberts

Journal article  |  2019  |  British Journal of Haematology

First-in-Human RNA Polymerase I Transcription Inhibitor CX-5461 in Patients with Advanced Hematologic Cancers: Results of a Phase I Dose-Escalation Study

Amit Khot, Natalie Brajanovski, Donald P Cameron, Nadine Hein, Kylee H Maclachlan, Elaine Sanij, John Lim, John Soong, Emma Link, Piers Blombery, Ella R Thompson, Andrew Fellowes, Karen E Sheppard, Grant A McArthur, Richard B Pearson, Ross D Hannan, Gretchen Poortinga, Simon J Harrison

Journal article  |  2019  |  Cancer Discovery

RNA polymerase I (Pol I) transcription of ribosomal RNA genes (rDNA) is tightly regulated downstream of oncogenic pathways, and it..

CNspector: a web-based tool for visualisation and clinical diagnosis of copy number variation from next generation sequencing

John F Markham, Satwica Yerneni, Georgina L Ryland, Huei San Leong, Andrew Fellowes, Ella R Thompson, Wasanthi De Silva, Amit Kumar, Richard Lupat, Jason Li, Jason Ellul, Stephen Fox, Michael Dickinson, Anthony T Papenfuss, Piers Blombery

Journal article  |  2019  |  Scientific Reports

Next Generation Sequencing is now routinely used in the practice of diagnostic pathology to detect clinically relevant somatic and..

Molecular Drivers of Breast Implant-Associated Anaplastic Large Cell Lymphoma

Piers Blombery, Ella R Thompson, H Miles Prince

Journal article  |  2019  |  Plastic and Reconstructive Surgery

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare T-cell lymphoproliferative disorder occurring in pat..

Acquisition of the Recurrent Gly101Val Mutation in BCL2 Confers Resistance to Venetoclax in Patients with Progressive Chronic Lymphocytic Leukemia

Piers Blombery, Mary Ann Anderson, Jia-nan Gong, Rachel Thijssen, Richard W Birkinshaw, Ella R Thompson, Charis E Teh, Tamia Nguyen, Zhen Xu, Christoffer Flensburg, Thomas E Lew, Ian J Majewski, Daniel HD Gray, David A Westerman, Constantine S Tam, John F Seymour, Peter E Czabotar, David CS Huang, Andrew W Roberts

Journal article  |  2019  |  Cancer Discovery

Acquisition of the Recurrent Gly101Val Mutation in BCL2 Confers Resistance to Venetoclax in Patients with Progressive Chronic Lymphocytic Leukemia

Piers Blombery, Mary Ann Anderson, Jianan Gong, Rachel Thijssen, Richard W Birkinshaw, Ella Thompson, Charis E Teh, Tamia Nguyen, Zhen Xu, Christoffer Flensburg, Thomas Lew, Ian Majewski, Daniel Gray, David Alan Westerman, Constantine S Tam, John F Seymour, Peter E Czabotar, David Huang, Andrew W Roberts

Conference Proceedings  |  2018  |  Blood

Frequent activating STAT3 mutations and novel recurrent genomic abnormalities detected in breast implant-associated anaplastic large cell lymphoma.

Piers Blombery, Ella Thompson, Georgina L Ryland, Rachel Joyce, David J Byrne, Christine Khoo, Stephen Lade, Mark Hertzberg, Greg Hapgood, Paula Marlton, Anand Deva, Geoffrey Lindeman, Stephen Fox, David Westerman, Miles Prince

Journal article  |  2018  |  Oncotarget

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare form of T-cell lymphoma that occurs after implantati..

Mutations in RECQL are not associated with breast cancer risk in an Australian population

Na Li, Simone M Rowley, David L Goode, Kaushalya C Amarasinghe, Simone McInerny, Lisa Devereux, Michelle W Wong-Brown, Richard Lupat, Jue Er Amanda Lee, Siobhan Hughes, Ella R Thompson, Magnus Zethoven, Jason Li, Alison H Trainer, Kylie L Gorringe, Rodney J Scott, Paul A James, Ian G Campbell

Journal article  |  2018  |  Nature Genetics

Detection of clinically relevant early genomic lesions in B-cell malignancies from circulating tumour DNA using a single hybridisation-based next generation sequencing assay

Piers A Blombery, Georgina L Ryland, John Markham, Jerick Guinto, Meaghan Wall, Michelle McBean, Kate Jones, Ella R Thompson, Daniel L Cameron, Anthony T Papenfuss, Miles H Prince, Michael Dickinson, David Alan Westerman

Journal article  |  2018  |  British Journal of Haematology

Sensitive NPM1 Mutation Quantitation in Acute Myeloid Leukemia Using Ultradeep Next-Generation Sequencing in the Diagnostic Laboratory

Piers Blombery, Kate Jones, Ken Doig, Georgina Ryland, Michelle McBean, Ella Thompson, Costas K Yannakou, David Westerman

Journal article  |  2018  |  Archives of Pathology & Laboratory Medicine

Enhancing venetoclax activity in acute myeloid leukemia by co-targeting MCL1

T-C Teh, N-Y Nguyen, DM Moujalled, D Segal, G Pomilio, S Rijal, A Jabbour, K Cummins, K Lackovic, P Blombery, E Thompson, PG Ekert, G Lessene, SP Glaser, DCS Huang, AW Roberts, MA Guthridge, AH Wei

Journal article  |  2018  |  Leukemia

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs

Na Li, Simone M Rowley, Ella R Thompson, Simone McInerny, Lisa Devereux, Kaushalya C Amarasinghe, Magnus Zethoven, Richard Lupat, David Goode, Jason Li, Alison H Trainer, Kylie L Gorringe, Paul A James, Ian G Campbell

Journal article  |  2018  |  BREAST CANCER RESEARCH

Incidental detection of germline variants of potential clinical significance by massively parallel sequencing in haematological malignancies

Costas K Yannakou, Kate Jones, Georgina L Ryland, Ella R Thompson, Gareth Reid, Michelle McBean, Alison Trainer, David Westerman, Piers Blombery

Journal article  |  2018  |  Journal of Clinical Pathology

ASXL1 c.1934dup;p.Gly646Trpfs*12-a true somatic alteration requiring a new approach

Costas K Yannakou, Kate Jones, Michelle McBean, Ella R Thompson, Georgina L Ryland, Ken Doig, John Markham, David Westerman, Piers Blombery

Journal article  |  2017  |  Blood Cancer Journal

Canary: an atomic pipeline for clinical amplicon assays

Kenneth D Doig, Jason Ellul, Andrew Fellowes, Ella R Thompson, Georgina Ryland, Piers Blombery, Anthony T Papenfuss, Stephen B Fox

Journal article  |  2017  |  BMC Bioinformatics

PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories

Kenneth D Doig, Andrew Fellowes, Anthony H Bell, Andrei Seleznev, David Ma, Jason Ellul, Jason Li, Maria A Doyle, Ella R Thompson, Amit Kumar, Luis Lara, Ravikiran Vedururu, Gareth Reid, Thomas Conway, Anthony T Papenfuss, Stephen B Fox

Journal article  |  2017  |  Genome Medicine

Compromized DNA repair as a basis for identification of cancer radiotherapy patients with extreme radiosensitivity

Pavel Lobachevsky, Trevor Leong, Patricia Daly, Jai Smith, Nickala Best, Jonathan Tomaszewski, Ella R Thompson, Na Li, Ian G Campbell, Roger F Martin, Olga A Martin

Journal article  |  2016  |  Cancer Letters

Reevaluation of RINT1 as a breast cancer predisposition gene

Na Li, Ella R Thompson, Simone M Rowley, Simone McInerny, Lisa Devereux, David Goode, Michelle W Wong-Brown, Rodney J Scott, Alison H Trainer, Kylie L Gorringe, Paul A James, Ian G Campbell

Journal article  |  2016  |  Breast Cancer Research and Treatment

Whole exome sequencing reveals activating JAK1 and STAT3 mutations in breast implant-associated anaplastic large cell lymphoma anaplastic large cell lymphoma

Piers Blombery, Ella R Thompson, Kate Jones, Gisela Mir Arnau, Stephen Lade, John F Markham, Jason Li, Anand Deva, Ricky W Johnstone, Amit Khot, H Miles Prince, David Westerman

Journal article  |  2016  |  Haematologica

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

Douglas F Easton, Fabienne Lesueur, Brennan Decker, Kyriaki Michailidou, Jun Li, Jamie Allen, Craig Luccarini, Karen A Pooley, Mitul Shah, Manjeet K Bolla, Qin Wang, Joe Dennis, Jamil Ahmad, Ella R Thompson, Francesca Damiola, Maroulio Pertesi, Catherine Voegele, Noura Mebirouk, Nivonirina Robinot, Geoffroy Durand, et al.

Journal article  |  2016  |  JOURNAL OF MEDICAL GENETICS

Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care

Ella R Thompson, Simone M Rowley, Na Li, Simone McInerny, Lisa Devereux, Michelle W Wong-Brown, Alison H Trainer, Gillian Mitchell, Rodney J Scott, Paul A James, Ian G Campbell

Journal article  |  2016  |  Journal of Clinical Oncology

Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context

Ella R Thompson, Kylie L Gorringe, Simone M Rowley, Na Li, Simone McInerny, Michelle W Wong-Brown, Lisa Devereux, Jason Li, Alison H Trainer, Gillian Mitchell, Rodney J Scott, Paul A James, Ian G Campbell

Journal article  |  2015  |  Sci Rep

FANCM c.5791C > T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Paolo Peterlongo, Irene Catucci, Mara Colombo, Laura Caleca, Eliseos Mucaki, Massimo Bogliolo, Maria Marin, Francesca Damiola, Loris Bernard, Valeria Pensotti, Sara Volorio, Valentina Dall'Olio, Alfons Meindl, Claus Bartram, Christian Sutter, Harald Surowy, Valerie Sornin, Marie-Gabrielle Dondon, Severine Eon-Marchais, Dominique Stoppa-Lyonnet, et al.

Journal article  |  2015  |  Human Molecular Genetics

Copy number analysis of ductal carcinoma in situ with and without recurrence

Kylie L Gorringe, Sally M Hunter, Jia-Min Pang, Ken Opeskin, Prue Hill, Simone M Rowley, David YH Choong, Ella R Thompson, Alexander Dobrovic, Stephen B Fox, G Bruce Mann, Ian G Campbell

Journal article  |  2015  |  Modern Pathology

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

Ella R Thompson, Kylie L Gorringe, Simone M Rowley, Michelle W Wong-Brown, Simone McInerny, Na Li, Alison H Trainer, Lisa Devereux, Maria A Doyle, Jason Li, Richard Lupat, Martin B Delatycki, Gillian Mitchell, Paul A James, Rodney J Scott, Ian G Campbell

Journal article  |  2015  |  Breast Cancer Res

Bioinformatics Pipelines for Targeted Resequencing and Whole-Exome Sequencing of Human and Mouse Genomes: A Virtual Appliance Approach for Instant Deployment

Jason Li, Maria A Doyle, Isaam Saeed, Stephen Q Wong, Victoria Mar, David L Goode, Franco Caramia, Ken Doig, Georgina L Ryland, Ella R Thompson, Sally M Hunter, Saman K Halgamuge, Jason Ellul, Alexander Dobrovic, Ian G Campbell, Anthony T Papenfuss, Grant A McArthur, Richard W Tothill

Journal article  |  2014  |  PLOS ONE

Analysis of RAD51D in Ovarian Cancer Patients and Families with a History of Ovarian or Breast Cancer

Ella R Thompson, Simone M Rowley, Sarah Sawyer, Diana M Eccles, Alison H Trainer, Gillian Mitchell, Paul A James, Ian G Campbell

Journal article  |  2013  |  PLOS ONE

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

Melissa C Southey, Daniel J Park, Tu Nguyen-Dumont, Ian Campbell, Ella Thompson, Alison H Trainer, Georgia Chenevix-Trench, Jacques Simard, Martine Dumont, Penny Soucy, Mads Thomassen, Lars Jonson, Inge S Pedersen, Thomas VO Hansen, Heli Nevanlinna, Sofia Khan, Olga Sinilnikova, Sylvie Mazoyer, Fabienne Lesueur, Francesca Damiola, et al.

Journal article  |  2013  |  Breast Cancer Research

Rare variants in XRCC2 as breast cancer susceptibility alleles

Florentine S Hilbers, Juul T Wijnen, Nicoline Hoogerbrugge, Jan C Oosterwijk, Margriet J Collee, Paolo Peterlongo, Paolo Radice, Siranoush Manoukian, Irene Feroce, Fabio Capra, Fergus J Couch, Xianshu Wang, Lucia Guidugli, Kenneth Offit, Sohela Shah, Ian G Campbell, Ella R Thompson, Paul A James, Alison H Trainer, Javier Gracia, et al.

Journal article  |  2012  |  Journal of Medical Genetics

Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles

Ella R Thompson, Maria A Doyle, Georgina L Ryland, Simone M Rowley, David YH Choong, Richard W Tothill, Heather Thorne, Daniel R Barnes, Jason Li, Jason Ellul, Gayle K Philip, Yoland C Antill, Paul A James, Alison H Trainer, Gillian Mitchell, Ian G Campbell

Journal article  |  2012  |  PLoS Genetics

Analysis of KLLN as a high-penetrance breast cancer predisposition gene

Ella R Thompson, Kylie L Gorringe, David YH Choong, Diana M Eccles, Gillian Mitchell, Ian G Campbell

Journal article  |  2012  |  BREAST CANCER RESEARCH AND TREATMENT

Identification of copy number alterations associated with the progression of DCIS to invasive ductal carcinoma

Clint E Johnson, Kylie L Gorringe, Ella R Thompson, Ken Opeskin, Samantha E Boyle, Yuker Wang, Prue Hill, G Bruce Mann, Ian G Campbell

Journal article  |  2012  |  Breast Cancer Research and Treatment

CONTRA: copy number analysis for targeted resequencing

Jason Li, Richard Lupat, Kaushalya C Amarasinghe, Ella R Thompson, Maria A Doyle, Georgina L Ryland, Richard W Tothill, Saman K Halgamuge, Ian G Campbell, Kylie L Gorringe

Journal article  |  2012  |  BIOINFORMATICS

Analysis of RAD51C Germline Mutations in High-Risk Breast and Ovarian Cancer Families and Ovarian Cancer Patients

Ella R Thompson, Samantha E Boyle, Julie Johnson, Georgina L Ryland, Sarah Sawyer, David YH Choong, Georgia Chenevix-Trench, Alison H Trainer, Geoffrey J Lindeman, Gillian Mitchell, Paul A James, Ian G Campbell

Journal article  |  2012  |  Human Mutation

BRCA and Beyond: A Genome-first Approach to Familial Breast Cancer Risk Assessment

Alison H Trainer, Ella R Thompson, Paul A James

Journal article  |  2011  |  Discovery medicine

SNORD-host RNA Zfas1 is a regulator of mammary development and a potential marker for breast cancer

Marjan E Askarian-Amiri, Joanna Crawford, Juliet D French, Chanel E Smart, Martin A Smith, Michael B Clark, Kelin Ru, Tim R Mercer, Ella R Thompson, Sunil R Lakhani, Ana C Vargas, Ian G Campbell, Melissa A Brown, Marcel E Dinger, John S Mattick

Journal article  |  2011  |  RNA

No evidence of clonal somatic genetic alterations in cancer-associated fibroblasts from human breast and ovarian carcinomas

Wen Qiu, Min Hu, Anita Sridhar, Ken Opeskin, Stephen Fox, Michail Shipitsin, Melanie Trivett, Ella R Thompson, Manasa Ramakrishna, Kylie L Gorringe, Kornelia Polyak, Izhak Haviv, Ian G Campbell

Journal article  |  2008  |  Nature Genetics