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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

IDH -mutant myeloid neoplasms are associated with seronegative rheumatoid arthritis and innate immune activation

Blood (2024) 143 (18): 1873–1877.

https://doi.org/10.1182/blood.2023023593

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

Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma

Blood (2023) 141 (11): 1293–1307.

https://doi.org/10.1182/blood.2022016056

Published: 2023

Includes: Supplemental data

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

Allogeneic Hematopoietic Stem Cell Transplant Outcomes in Adults with Inherited Myeloid Malignancies

Blood (2022) 140 (Supplement 1): 10542–10544.

https://doi.org/10.1182/blood-2022-167098

Published: 2022

Journal Articles

Integrated Personalized Prediction Model Identifies a Subgroup of Wild-Type TP53 therapy-Related Myeloid Neoplasm Patients with Poor Outcome

Blood (2022) 140 (Supplement 1): 6964–6965.

https://doi.org/10.1182/blood-2022-168349

Published: 2022

Journal Articles

TP53 Mutation Status Defines a Distinct Clinicopathological Entity of Therapy-Related Myeloid Neoplasm, Characterized By Genomic Instability and Extremely Poor Outcome

Blood (2022) 140 (Supplement 1): 9798–9799.

https://doi.org/10.1182/blood-2022-165859

Published: 2022

Journal Articles

Childhood acute myeloid leukemia shows a high level of germline predisposition

Blood (2021) 138 (22): 2293–2298.

https://doi.org/10.1182/blood.2021012666

Published: 2021

Includes: Supplemental data

Journal Articles

Unexpected High Frequency of Pathogenic Germline Variants in Older Adults with Primary Myelodysplastic Syndrome

Christopher N Hahn, Simone K. Feurstein, Deepak Singhal, Monika M Kutyna, Rakchha Chhetri, Amilia Wee, Daniel Thomas, Hamish S Scott, Devendra Hiwase

Blood (2021) 138 (Supplement 1): 2594.

https://doi.org/10.1182/blood-2021-154514

Published: 2021

Journal Articles

Secondary leukemia in patients with germline transcription factor mutations ( RUNX1 , GATA2 , CEBPA )

Anna L. Brown, Christopher N. Hahn, Hamish S. Scott

Blood (2020) 136 (1): 24–35.

https://doi.org/10.1182/blood.2019000937

Published: 2020

Includes: Supplemental data

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

An Integrative Genomic Approach to Examine Mutations and Biological Pathways Associated with Hematological Malignancy Development in DDX41 Mutated Families

Parvathy Venugopal, PhD, Jesse JC Cheah, Leila Eshraghi, PhD, Nur Hezrin Shahrin, PhD, Claire Homan, PhD, Jinghua Feng, PhD, Andreas W Schreiber, PhD, Miriam Fine, Kerry Phillips, Nicola Poplawski, MD, Anna L Brown, PhD, Christopher N Hahn, PhD, Hamish S Scott, PhD FFSc (RCPA)

Blood (2019) 134 (Supplement_1): 2686.

https://doi.org/10.1182/blood-2019-131649

Published: 2019

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

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

Development of a Data Portal for Aggregation and Analysis of Genomics Data in Familial Platelet Disorder with Predisposition to Myeloid Malignancy - the RUNX1.DB

Anna L. Brown, PhD BSc, Mark Armstrong, MSc, David Lawrence, Paul Wang, Peer Arts, PhD, Nicolas Duployez, PharmD, PhD, Jane Churpek, MD, Kiran Tawana, MD, Erin Degelman, MSc, BSc, Georges Natsoulis, PhD, Monica L. Guzman, PhD, Mrinal M. Patnaik, MD MBBS, Akiko Shimamura, MD PhD, Alan B. Cantor, MD PhD, Tim Ripperger, MD PhD, Brigitte Schlegelberger, MD PhD, Doris Steinemann, PhD, Courtney D. DiNardo, MD MSc, Cristina Mecucci, MD PhD, Elvira DRP Velloso, MD PhD, Fabio PS Santos, MD, Marcela CA Silva, Uma Borate, MD, Shannon K. McWeeney, PhD, Grzegorz Nalepa, MD PhD, Susanne Ragg, MD PhD, Erika Mijin Kwon, PhD, Anupriya Agarwal, PhD, Stephen Langabeer, PhD, Jeffery M. Klco, MD PhD, Jun J. Yang, PhD, Cecily Forsyth, FRACP, FRCPA, MBBS, Sally Mapp, MD PhD, Helen Mar Fan, MD, Lesley Rawlings, PhD, Rachel Susman, Sue Morgan, FRACP, FRCPA, MBBS, Andrew H Wei, MBBS,PhD, Inderjeet Dokal, MD, Tom Vulliamy, Devendra K Hiwase, MBBS, MD FRACP, FRCPA, PhD, Deepak Singhal, MBBS, MD FRACP, FRCPA, Susan Branford, PhD, Elli Papaemmanuil, PhD, Jean Soulier, MDPhD, Stefan Fröhling, MD, Alwin Kramer, MD, Guy Sauvageau, MD PhD, Neil Morgan, Carolyn Owen, Csaba Bödör, PhD, Jude Fitzgibbon, Hugh Y. Rienhoff, Jr., MD, Mineo Kurokawa, MD PhD, Lucy Godley, MD PhD, Claude Preudhomme, Paul P Liu, MD PhD, Nicola Poplawski, MD, Christopher N. Hahn, PhD, Hamish S. Scott, PhD

Blood (2018) 132 (Supplement 1): 5241.

https://doi.org/10.1182/blood-2018-99-118017

Published: 2018

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

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

Clonal Evolution in the Setting of Germline Predisposition

Anna L Brown, PhD, Jane Churpek, MD, Christopher N Hahn, PhD, Hamish S Scott, BSc, PhD FFSc (RCPA), FAHMS

Blood (2017) 130 (Supplement 1): SCI-39.

https://doi.org/10.1182/blood.V130.Suppl_1.SCI-39.SCI-39

Published: 2017

NARROW

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

IDH -mutant myeloid neoplasms are associated with seronegative rheumatoid arthritis and innate immune activation

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

Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma

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

Allogeneic Hematopoietic Stem Cell Transplant Outcomes in Adults with Inherited Myeloid Malignancies

Integrated Personalized Prediction Model Identifies a Subgroup of Wild-Type TP53 therapy-Related Myeloid Neoplasm Patients with Poor Outcome

TP53 Mutation Status Defines a Distinct Clinicopathological Entity of Therapy-Related Myeloid Neoplasm, Characterized By Genomic Instability and Extremely Poor Outcome

Childhood acute myeloid leukemia shows a high level of germline predisposition

Unexpected High Frequency of Pathogenic Germline Variants in Older Adults with Primary Myelodysplastic Syndrome

Secondary leukemia in patients with germline transcription factor mutations ( RUNX1 , GATA2 , CEBPA )

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

An Integrative Genomic Approach to Examine Mutations and Biological Pathways Associated with Hematological Malignancy Development in DDX41 Mutated Families

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

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

Development of a Data Portal for Aggregation and Analysis of Genomics Data in Familial Platelet Disorder with Predisposition to Myeloid Malignancy - the RUNX1.DB

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

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

Clonal Evolution in the Setting of Germline Predisposition

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