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Journal Articles

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

Jiarna R. Zerella, Claire C. Homan, Peer Arts, Xuzhu Lin, Sam J. Spinelli, Parvathy Venugopal, Milena Babic, Peter J. Brautigan, Lynda Truong, Luis Arriola-Martinez, Sarah Moore, Rachel Hollins, Wendy T. Parker, Hung Nguyen, Karin S. Kassahn, Susan Branford, Simone Feurstein, Lise Larcher, Flore Sicre de Fontbrune, Serwet Demirdas, Sonja de Munnik, Hélène Antoine-Poirel, Benedicte Brichard, Sahar Mansour, Kristiana Gordon, Marcin W. Wlodarski, Ashwin Koppayi, Sara Dobbins, Pim G. N. J. Mutsaers, Kim E. Nichols, Ninad Oak, Desiree DeMille, Rong Mao, Ali Crawford, Julie McCarrier, Donald Basel, Josue Flores-Daboub, Michael W. Drazer, Kerry Phillips, Nicola K. Poplawski, Graeme M. Birdsey, Daniela Pirri, Pia Ostergaard, Annet Simons, Lucy A. Godley, David M. Ross, Devendra K. Hiwase, Jean Soulier, Anna L. Brown, Catherine L. Carmichael, Hamish S. Scott, Christopher N. Hahn

Blood (2024) 144 (17): 1765–1780.

https://doi.org/10.1182/blood.2024024607

Published: 2024

Includes: Supplemental data

Journal Articles

Deleterious Germline Variants, Especially in the DNA Repair Pathway, Are Common in Patients with Non-Related Multiple Cancers, One of Them Being Hematological Malignancy

Blood (2019) 134 (Supplement_1): 1704.

https://doi.org/10.1182/blood-2019-126462

Published: 2019

Journal Articles

An RNA-Based Next Generation Sequencing (NGS) Strategy Detects More Cancer Gene Mutations Than a DNA-Based Approach for the Prediction and Assessment of Resistance in CML

Susan Branford, PhD FFSc (RCPA), Carol Wadham, PhD, Naranie Shanmuganathan, MBBS FRACP FRCPA, Daniel Thomson, PhD BSc, NUR Hezrin Shahrin, PhD, Jinghua Feng, PhD, Verity A Saunders, Wendy T Parker, PhD, Rob King, Paul Wang, PhD, Hamish S Scott, PhD FFSc (RCPA), Andreas Schreiber, PhD, Timothy P. Hughes, MDMBBS,FRACP,FRCPA

Blood (2019) 134 (Supplement_1): 2918.

https://doi.org/10.1182/blood-2019-123242

Published: 2019

Journal Articles

Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease

Blood (2018) 132 (9): 948–961.

https://doi.org/10.1182/blood-2018-02-832253

Published: 2018

Includes: Supplemental data

Journal Articles

Novel Fusion Genes at CML Diagnosis Reveal a Complex Pattern of Genomic Rearrangements and Sequence Inversions Associated with the Philadelphia Chromosome in Patients with Early Blast Crisis

Justine E Marum, PhD, Paul PS Wang, PhD, Doris Stangl, PhD, David T. Yeung, BSc, MBBS, FRACP, FRCPA, Martin C. Mueller, Christian T. Dietz, PhD, Ieuan Walker, MSc, BSc, MBBS, Nathalie Nataren, BSc, Zoe Donaldson, BSc, Wendy T Parker, PhD, David M. Ross, MBBS, PhD FRACP, FRCPA, Hamish S Scott, BSc, PhD FFSc (RCPA), FAHMS, Timothy P. Hughes, MD FRACP, FRCPA, MBBS, FAAHMS, Andreas W Schreiber, PhD, Susan Branford, PhD FFSc (RCPA)

Blood (2016) 128 (22): 1219.

https://doi.org/10.1182/blood.V128.22.1219.1219

Published: 2016

Journal Articles

The Frequency of Genetic Mutations in T-MN Is High and Comparable to Primary MDS but the Spectrum Is Different

Blood (2016) 128 (22): 3157.

https://doi.org/10.1182/blood.V128.22.3157.3157

Published: 2016

Journal Articles

The impact of multiple low-level BCR-ABL1 mutations on response to ponatinib

Wendy T. Parker, David T. O. Yeung, Alexandra L. Yeoman, Haley K. Altamura, Bronte A. Jamison, Chani R. Field, J. Graeme Hodgson, Stephanie Lustgarten, Victor M. Rivera, Timothy P. Hughes, Susan Branford

Blood (2016) 127 (15): 1870–1880.

https://doi.org/10.1182/blood-2015-09-666214

Published: 2016

Includes: Supplemental data

Journal Articles

Compound mutations in BCR-ABL1 are not major drivers of primary or secondary resistance to ponatinib in CP-CML patients

Blood (2016) 127 (6): 703–712.

https://doi.org/10.1182/blood-2015-08-660977

Published: 2016

Includes: Supplemental data

Journal Articles

Rare and Common Germline Variants Contribute to Occurrence of Myelodysplastic Syndrome

Blood (2015) 126 (23): 1644.

https://doi.org/10.1182/blood.V126.23.1644.1644

Published: 2015

Journal Articles

The Adverse Effect of High Sokal Risk for First Line Imatinib Treated Patients Is Overcome By a Rapid Rate of BCR-ABL Decline Measured As Early As 1 Month of Treatment

Susan Branford, PhD, David T Yeung, BSc, MBBS, FRACP, FRCPA, David M Ross, MBBS, PhD FRACP, FRCPA, Wendy T Parker, PhD, Jodi Braley, John F Seymour, MBBS, FRACP, PhD, Timothy P. Hughes, MD

Blood (2014) 124 (21): 816.

https://doi.org/10.1182/blood.V124.21.816.816

Published: 2014

Journal Articles

Aberrant Activation of Epidermal Growth Factor Receptor in MPN May Respond to the Kinase Inhibitor Gefitinib

Debora A Casolari, PhD, Diana G Iarossi, BSc (Hons), Carolyn M Butcher, MMedSc(Hons), Sarah C Bray, PhD, Wendy T Parker, PhD, Chris N Hahn, PhD, Susan Branford, PhD, Peter Bardy, MD, Ian D Lewis, MBBS, PhD, Hamish S Scott, PhD, Steven W Lane, MD PhD, David M Ross, MBBS, PhD FRACP, FRCPA, Richard J D'Andrea, PhD

Blood (2014) 124 (21): 1882.

https://doi.org/10.1182/blood.V124.21.1882.1882

Published: 2014

Journal Articles

Detection of BCR-ABL1 Compound and Polyclonal Mutants in Chronic Myeloid Leukemia Patients Using a Novel Next Generation Sequencing Approach That Minimises PCR and Sequencing Errors

Wendy T Parker, PhD, Stuart R Phillis, BSc, David T Yeung, BSc, MBBS, FRACP, FRCPA, David Lawrence, BCS, Andreas Schreiber, PhD, Paul Wang, PhD, Joel Geoghegan, MSc, Stephanie Lustgarten, PhD, Graeme Hodgson, Victor M. Rivera, PhD, Timothy P. Hughes, MD, Hamish Scott, PhD, Susan Branford, PhD

Blood (2014) 124 (21): 399.

https://doi.org/10.1182/blood.V124.21.399.399

Published: 2014

Journal Articles

Prognosis for patients with CML and >10% BCR-ABL1 after 3 months of imatinib depends on the rate of BCR-ABL1 decline

Susan Branford, David T. Yeung, Wendy T. Parker, Nicola D. Roberts, Leanne Purins, Jodi A. Braley, Haley K. Altamura, Alexandra L. Yeoman, Jasmina Georgievski, Bronte A. Jamison, Stuart Phillis, Zoe Donaldson, Mary Leong, Linda Fletcher, John F. Seymour, Andrew P. Grigg, David M. Ross, Timothy P. Hughes

Blood (2014) 124 (4): 511–518.

https://doi.org/10.1182/blood-2014-03-566323

Published: 2014

Includes: Supplemental data

Journal Articles

Many BCR-ABL1 compound mutations reported in chronic myeloid leukemia patients may actually be artifacts due to PCR-mediated recombination

Wendy T. Parker, Stuart R. Phillis, David T. O. Yeung, Timothy P. Hughes, Hamish S. Scott, Susan Branford

Blood (2014) 124 (1): 153–155.

https://doi.org/10.1182/blood-2014-05-573485

Published: 2014

Journal Articles

PCR-Mediated Recombination Can Lead To Artificial Chimera Formation, Which May Pose As BCR-ABL1 Compound Mutations

Wendy T Parker, PhD, Stuart R Phillis, BSc, David T Yeung, BSc, MBBS, FRACP, FRCPA, Timothy P. Hughes, MD, Hamish S Scott, PhD, Susan Branford, PhD

Blood (2013) 122 (21): 4014.

https://doi.org/10.1182/blood.V122.21.4014.4014

Published: 2013

Journal Articles

Additional BCR-ABL1 Mutations Identified By Sensitive Mass Spectrometry In Chronic Phase CML Patients With T315I Treated With Ponatinib Are Associated With Relatively Inferior Responses and Outcome

Wendy T Parker, PhD, Alexandra L Yeoman, BSc, Haley Altamura, BSc, Nicola Roberts, BSc, David T Yeung, BSc, MBBS, FRACP, FRCPA, Bronte A Jamison, BSc, Chani Field, BSc, Stephanie Lustgarten, PhD, Graeme Hodgson, PhD, Victor M. Rivera, PhD, Timothy P. Hughes, MD, MBBS, Susan Branford, PhD

Blood (2013) 122 (21): 651.

https://doi.org/10.1182/blood.V122.21.651.651

Published: 2013

Journal Articles

Any BCR-ABL Reduction Below 10% At 6 Months Of Therapy Significantly Improves Outcome For CML Patients With a Poor Response At 3 Months

Susan Branford, PhD, Nicola Roberts, BSc, David T Yeung, BSc, MBBS, FRACP, FRCPA, Haley Altamura, BSc, Wendy T Parker, PhD, Timothy P. Hughes, MD, MBBS

Blood (2013) 122 (21): 254.

https://doi.org/10.1182/blood.V122.21.254.254

Published: 2013

Journal Articles

The patient's BCR-ABL1 Kinase Domain Mutation History Is Important for Decisions Regarding Tyrosine Kinase Inhibitor Therapy

Wendy T Parker, PhD, Alexandra L Yeoman, BSc, Bronte A Jamison, BSc, David T Yeung, BSc, MBBS, FRACP, FRCPA, Hamish S Scott, PhD, Timothy P Hughes, MD, Susan Branford, PhD

Blood (2012) 120 (21): 1692.

https://doi.org/10.1182/blood.V120.21.1692.1692

Published: 2012

Journal Articles

Single Molecule Real Time (SMRT™) Sequencing Sensitively Detects the Evolution of Polyclonal and Compound BCR-ABL Mutations in Patients Who Relapse On Kinase Inhibitor Therapy

Catherine C Smith, MD, Michael Brown, PhD, Wendy T Parker, PhD, Kimberly Lin, BS, Kevin Travers, PhD, Susana Wang, Susan Branford, PhD, Neil Shah, MD, PhD

Blood (2012) 120 (21): 917.

https://doi.org/10.1182/blood.V120.21.917.917

Published: 2012

Journal Articles

Poor response to second-line kinase inhibitors in chronic myeloid leukemia patients with multiple low-level mutations, irrespective of their resistance profile

Wendy T. Parker, Musei Ho, Hamish S. Scott, Timothy P. Hughes, Susan Branford

Blood (2012) 119 (10): 2234–2238.

https://doi.org/10.1182/blood-2011-08-375535

Published: 2012

Includes: Supplemental data

NARROW

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

Deleterious Germline Variants, Especially in the DNA Repair Pathway, Are Common in Patients with Non-Related Multiple Cancers, One of Them Being Hematological Malignancy

An RNA-Based Next Generation Sequencing (NGS) Strategy Detects More Cancer Gene Mutations Than a DNA-Based Approach for the Prediction and Assessment of Resistance in CML

Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease

Novel Fusion Genes at CML Diagnosis Reveal a Complex Pattern of Genomic Rearrangements and Sequence Inversions Associated with the Philadelphia Chromosome in Patients with Early Blast Crisis

The Frequency of Genetic Mutations in T-MN Is High and Comparable to Primary MDS but the Spectrum Is Different

The impact of multiple low-level BCR-ABL1 mutations on response to ponatinib

Compound mutations in BCR-ABL1 are not major drivers of primary or secondary resistance to ponatinib in CP-CML patients

Rare and Common Germline Variants Contribute to Occurrence of Myelodysplastic Syndrome

The Adverse Effect of High Sokal Risk for First Line Imatinib Treated Patients Is Overcome By a Rapid Rate of BCR-ABL Decline Measured As Early As 1 Month of Treatment

Aberrant Activation of Epidermal Growth Factor Receptor in MPN May Respond to the Kinase Inhibitor Gefitinib

Detection of BCR-ABL1 Compound and Polyclonal Mutants in Chronic Myeloid Leukemia Patients Using a Novel Next Generation Sequencing Approach That Minimises PCR and Sequencing Errors

Prognosis for patients with CML and >10% BCR-ABL1 after 3 months of imatinib depends on the rate of BCR-ABL1 decline

Many BCR-ABL1 compound mutations reported in chronic myeloid leukemia patients may actually be artifacts due to PCR-mediated recombination

PCR-Mediated Recombination Can Lead To Artificial Chimera Formation, Which May Pose As BCR-ABL1 Compound Mutations

Additional BCR-ABL1 Mutations Identified By Sensitive Mass Spectrometry In Chronic Phase CML Patients With T315I Treated With Ponatinib Are Associated With Relatively Inferior Responses and Outcome

Any BCR-ABL Reduction Below 10% At 6 Months Of Therapy Significantly Improves Outcome For CML Patients With a Poor Response At 3 Months

The patient's BCR-ABL1 Kinase Domain Mutation History Is Important for Decisions Regarding Tyrosine Kinase Inhibitor Therapy

Single Molecule Real Time (SMRT™) Sequencing Sensitively Detects the Evolution of Polyclonal and Compound BCR-ABL Mutations in Patients Who Relapse On Kinase Inhibitor Therapy

Poor response to second-line kinase inhibitors in chronic myeloid leukemia patients with multiple low-level mutations, irrespective of their resistance profile

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American Society of Hematology

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ASH Publications

American Society of Hematology

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