Advances in germline predisposition to acute leukaemias and myeloid neoplasms

JM Klco, CG Mullighan - Nature Reviews Cancer, 2021 - nature.com
Although much work has focused on the elucidation of somatic alterations that drive the
development of acute leukaemias and other haematopoietic diseases, it has become …

Genetic predisposition to hematologic malignancies: management and surveillance

LA Godley, A Shimamura - Blood, The Journal of the American …, 2017 - ashpublications.org
As individuals with germ line predisposition to hematologic malignancies are diagnosed
with increasing frequency, the need for clinical surveillance has become apparent …

NCCN guidelines insights: acute myeloid leukemia, version 2.2021: featured updates to the NCCN guidelines

DA Pollyea, D Bixby, A Perl, VR Bhatt… - Journal of the National …, 2021 - jnccn.org
The NCCN Guidelines for Acute Myeloid Leukemia (AML) provide recommendations for the
diagnosis and treatment of adults with AML based on clinical trials that have led to …

The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature

GJ Inman, J Wang, A Nagano, LB Alexandrov… - Nature …, 2018 - nature.com
Cutaneous squamous cell carcinoma (cSCC) has a high tumour mutational burden (50
mutations per megabase DNA pair). Here, we combine whole-exome analyses from 40 …

Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages

S Feurstein, AM Trottier, N Estrada-Merly… - Blood, The Journal …, 2022 - ashpublications.org
The frequency of pathogenic/likely pathogenic (P/LP) germ line variants in patients with
myelodysplastic syndrome (MDS) diagnosed at age 40 years or less is 15% to 20 …

Distinct evolution and dynamics of epigenetic and genetic heterogeneity in acute myeloid leukemia

S Li, FE Garrett-Bakelman, SS Chung, MA Sanders… - Nature medicine, 2016 - nature.com
Genetic heterogeneity contributes to clinical outcome and progression of most tumors, but
little is known about allelic diversity for epigenetic compartments, and almost no data exist …

The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile …

M Rudelius, OK Weinberg, CM Niemeyer… - Virchows Archiv, 2023 - Springer
Updating the classification of hematologic neoplasia with germline predisposition, pediatric
myelodysplastic syndrome (MDS), and juvenile myelomonocytic leukemia (JMML) is critical …

[HTML][HTML] Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes

SS Sahoo, EJ Kozyra, MW Wlodarski - Best Practice & Research Clinical …, 2020 - Elsevier
Increasing awareness about germline predisposition and the widespread application of
unbiased whole exome sequencing contributed to the discovery of new clinical entities with …

Challenges in the introduction of next-generation sequencing (NGS) for diagnostics of myeloid malignancies into clinical routine use

U Bacher, E Shumilov, J Flach, N Porret… - Blood cancer …, 2018 - nature.com
Given the vast phenotypic and genetic heterogeneity of acute and chronic myeloid
malignancies, hematologists have eagerly awaited the introduction of next-generation …

[HTML][HTML] Applications and analysis of targeted genomic sequencing in cancer studies

F Bewicke-Copley, EA Kumar, G Palladino… - Computational and …, 2019 - Elsevier
Abstract Next Generation Sequencing (NGS) has dramatically improved the flexibility and
outcomes of cancer research and clinical trials, providing highly sensitive and accurate high …