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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

ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy

Blood (2023) 142 (Supplement 2): LBA-6.

https://doi.org/10.1182/blood-2023-191986

Published: 2023

Journal Articles

Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in RUNX1 , GATA2 and DDX41

Anna L. Brown, Claire Homan, Michael W. Drazer, Kai Yu, David Lawrence, Jinghua Feng, Luis Arriola-Martinez, Matthew Pozsgai, Kelsey McNeely, Thuong Ha, Parvathy Venugopal, Peer Arts, Sarah King-Smith, Jesse JC Cheah, Mark Armstrong, Csaba Bödör, Paul Wang, Alan B. Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Remi Favier, Stefan Fröhling, Ana Rio-Machin, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslova, Hugh Young Rienhoff, Jr., Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Deolinda Rodrigues Pereira Velloso, Benedict Yan, Raman Sood, Amy Hsu, Steven M. Holland, Kerry Phillips, Nicola Poplawski, Milena Babic, Erika M Kwon Kim, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Ian D Lewis, Julian Cooney, Rachel Susman, Lucy C Fox, Piers Blombery, Deepak Singhal, Devendra Hiwase, Andreas W Schreiber, Christopher N Hahn, Hamish S Scott, Paul P. Liu, Lucy A. Godley

Blood (2022) 140 (Supplement 1): 4030–4033.

https://doi.org/10.1182/blood-2022-167600

Published: 2022

Journal Articles

Australian Familial Haematological Cancer Study - Findings from 15 Years of Aggregated Clinical, Genomic and Transcriptomic Data

Christopher N Hahn, PhD, Milena Babic, BMPharBio (Hons), Peter J Brautigan, BSc (Hons), Parvathy Venugopal, PhD MSc, BSc, Kerry Phillips, Julia Dobbins, BSc (Hons), Peer Arts, PhD, Amilia Wee, BSc (Hons), Deepak Singhal, MBBS,MDFRACP,FRCPA, Devendra K Hiwase, MBBS, MD FRACP, FRCPA, PhD, Jinghua Feng, PhD, Andreas W Schreiber, PhD, Richard J D'Andrea, PhD, Nicola Poplawski, MD, Anna L Brown, PhD, Hamish S Scott, PhD FFSc (RCPA)

Blood (2019) 134 (Supplement_1): 1439.

https://doi.org/10.1182/blood-2019-131686

Published: 2019

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

Familial Clustering of Hematological Malignancies: Harbingers of Wider Germline Cancer Susceptibility

Anna L Brown, PhD, Milena Babic, BMPharBio (Hons), Andreas Schreiber, Jinghua Feng, PhD, Julia Dobbins, BSc (Hons), Peer Arts, PhD, Paul Wang, PhD, Kerry Phillips, Devendra K Hiwase, MBBS, MD FRACP, FRCPA, PhD, Parvathy Venugopal, PhD MSc, BSc, Susan Branford, PhD FFSc (RCPA), Nicola Poplawski, MD, Christopher N Hahn, PhD, Hamish S Scott, PhD FFSc (RCPA)

Blood (2019) 134 (Supplement_1): 3794.

https://doi.org/10.1182/blood-2019-131642

Published: 2019

Journal Articles

Therapy-Related Myeloid Neoplasms (T-MN) and Primary MDS (PMDS) Patients with Very Low (VL) or Low (L) IPSS-R Score Share Clinical and Biological Characteristics and Have Similar Outcome

Blood (2018) 132 (Supplement 1): 3078.

https://doi.org/10.1182/blood-2018-99-115828

Published: 2018

Journal Articles

Genetic Predisposition to Therapy-Related Myeloid Neoplasm By Rare, Deleterious Germline Variants in DNA Repair Pathway and Myeloid Driver Genes

Blood (2018) 132 (Supplement 1): 1802.

https://doi.org/10.1182/blood-2018-99-117815

Published: 2018

Journal Articles

Presence of Rare Germline Variants in Fanconi Anaemia Pathway Genes Confers a Poor Prognosis Comparable to TP53 Mutations in Therapy-Related Myeloid Neoplasms

Blood (2017) 130 (Supplement 1): 4231.

https://doi.org/10.1182/blood.V130.Suppl_1.4231.4231

Published: 2017

Journal Articles

Duplication on Chromosome 14q Identified in Familial Predisposition to Myeloid Malignancies and Myeloproliferative Neoplasms

Christopher N Hahn, PhD, Amilia Wee, BSc (Hons), Milena Babic, BMPharBio (Hons), Jinghua Feng, PhD, Paul Wang, Monika M Kutyna, MSc, Sarah Moore, BSc (Hon), FFSc (RCPA), Anna L Brown, PhD, Richard D'Andrea, BSc,PhD, Deepak Singhal, MBBS, MD FRCPA, FRACP, Andreas Schreiber, PhD, Pratyush Giri, MD, David M Ross, MBBS, PhD FRACP, FRCPA, Devendra K Hiwase, MBBS, MD FRACP, FRCPA, PhD, Hamish S Scott, BSc, PhD FFSc (RCPA), FAHMS

Blood (2017) 130 (Supplement 1): 492.

https://doi.org/10.1182/blood.V130.Suppl_1.492.492

Published: 2017

Journal Articles

Metabolic Profiling of Adult Acute Myeloid Leukemia (AML)

Blood (2016) 128 (22): 1684.

https://doi.org/10.1182/blood.V128.22.1684.1684

Published: 2016

Journal Articles

Expanded Phenotypic and Genetic Heterogeneity in the Clinical Spectrum of FPD-AML: Lymphoid Malignancies and Skin Disorders Are Common Features in Carriers of Germline RUNX1 Mutations

Anna L Brown, PhD, Christopher N Hahn, PhD, Catherine Carmichael, Ella Wilkins, Milena Babic, BMPharBio (Hons), Chan-Eng Chong, PhD, Xiao-Chun Li, Joelle Michaud, Ping Cannon, Nicola Poplawski, MBChB, DipPaed, FRACP, MD, Meryl Altree, Kerry Phillips, Louise Jaensch, Miriam Fine, Andreas W Schreiber, PhD, Jinghua Feng, PhD, Lesley Rawlings, PhD, Cassandra Vakulin, Carolyn Butcher, Richard D'Andrea, PhD, Ian D Lewis, MBBS, PhD FRACP, FRCPA, Nigel Patton, Cecily Forsyth, MBBS, FRACP, FRCPA, Sally Mapp, PhD MD, Helen Mar Fan, Rachel Susman, Sue Morgan, FRACP, FRCPA, MBBS, Julian Cooney, MD, Mark S Currie, MD, Uday R. Popat, MD, Kenneth Bradstock, MBBS, PhD, April D. Sorrell, MD, Carolyn J. Owen, MD MDes(UK), FRCPC, Marshall S Horwitz, MD PhD, Devendra Hiwase, MBBS, FRACP, FRCPA, MD PhD, Alwin Krämer, MD, Stefan Fröhling, MD, Lucy A Godley, MD PhD, Jane E Churpek, MD, Hamish S Scott, BSc, PhD FFSc (RCPA), FAHMS

Blood (2016) 128 (22): 1212.

https://doi.org/10.1182/blood.V128.22.1212.1212

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

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

Blood (2016) 127 (8): 1017–1023.

https://doi.org/10.1182/blood-2015-10-676098

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

Clonal Diversity of Recurrently Mutated Genes in Myelodysplastic Syndromes

Devendra K Hiwase, MBBS, MD PhD FRACP, FRCPA, Chris N Hahn, PhD, Milena Babic, Sarah Moore, BSc(Hon), Carolyn M Butcher, MMedSc(Hons), Monika M Kutyna, Deepak Singhal, MD FRCPA,, Jinghua Feng, Bik To, MD, Andreas Schreiber, PhD, Hamish S Scott, PhD

Blood (2014) 124 (21): 4634.

https://doi.org/10.1182/blood.V124.21.4634.4634

Published: 2014

Journal Articles

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

Blood (2012) 119 (5): 1283–1291.

https://doi.org/10.1182/blood-2011-08-374363

Published: 2012

Includes: Supplemental data

NARROW

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

ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy

Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in RUNX1 , GATA2 and DDX41

Australian Familial Haematological Cancer Study - Findings from 15 Years of Aggregated Clinical, Genomic and Transcriptomic Data

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

Familial Clustering of Hematological Malignancies: Harbingers of Wider Germline Cancer Susceptibility

Therapy-Related Myeloid Neoplasms (T-MN) and Primary MDS (PMDS) Patients with Very Low (VL) or Low (L) IPSS-R Score Share Clinical and Biological Characteristics and Have Similar Outcome

Genetic Predisposition to Therapy-Related Myeloid Neoplasm By Rare, Deleterious Germline Variants in DNA Repair Pathway and Myeloid Driver Genes

Presence of Rare Germline Variants in Fanconi Anaemia Pathway Genes Confers a Poor Prognosis Comparable to TP53 Mutations in Therapy-Related Myeloid Neoplasms

Duplication on Chromosome 14q Identified in Familial Predisposition to Myeloid Malignancies and Myeloproliferative Neoplasms

Metabolic Profiling of Adult Acute Myeloid Leukemia (AML)

Expanded Phenotypic and Genetic Heterogeneity in the Clinical Spectrum of FPD-AML: Lymphoid Malignancies and Skin Disorders Are Common Features in Carriers of Germline RUNX1 Mutations

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

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

Rare and Common Germline Variants Contribute to Occurrence of Myelodysplastic Syndrome

Clonal Diversity of Recurrently Mutated Genes in Myelodysplastic Syndromes

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

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American Society of Hematology

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ASH Publications

American Society of Hematology

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