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Evaluating a CLL susceptibility variant in ITGB2 in families with multiple sub-types of hematological malignancies


Blackburn, NB and Marthick, JR and Banks, A and Charlesworth, JC and Marsden, KA and Lowenthal, RM and Blangero, J and Dickinson, JL, Evaluating a CLL susceptibility variant in ITGB2 in families with multiple sub-types of hematological malignancies, Blood, 130, (1) pp. 86-88. ISSN 0006-4971 (2017) [Refereed Article]


Copyright Statement

Copyright 2017 American Society of Hematology

DOI: doi:10.1182/blood-2017-03-774232


The application of rapid and affordable genome sequencing technologies to families with a high incidence of hematological malignancies (HMs) provides significant opportunities for understanding the genetic causes of these cancers. In one of the few studies published to date using this approach, Goldin et al recently reported that a rare variant (rs2230531) within ITGB2 is associated with genetic predisposition to chronic lymphocytic leukemia (CLL). In this study whole exome sequencing (WES) was performed in a discovery set of 20 high-risk CLL families. Analysis proceeded on a ‘per family basis’, to identify rare (minor allele frequency (MAF) < 1% in population databases), nonsynonymous variants shared in the CLL cases, as well as obligate carriers and non-Hodgkin lymphoma (NHL) cases. In 20 families, 926 variants were prioritized, of which two were identified in multiple families, rs2230531 in ITGB2 and rs201725177 in SWI5.

Item Details

Item Type:Refereed Article
Keywords:haematology, cancer, genetics
Research Division:Biomedical and Clinical Sciences
Research Group:Clinical sciences
Research Field:Medical genetics (excl. cancer genetics)
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Blackburn, NB (Dr Nicholas Blackburn)
UTAS Author:Marthick, JR (Mr James Marthick)
UTAS Author:Banks, A (Mrs Annette Banks)
UTAS Author:Charlesworth, JC (Dr Jac Charlesworth)
UTAS Author:Lowenthal, RM (Professor Ray Lowenthal)
UTAS Author:Dickinson, JL (Professor Joanne Dickinson)
ID Code:116978
Year Published:2017
Funding Support:Australian Research Council (FT120100623)
Web of Science® Times Cited:4
Deposited By:Menzies Institute for Medical Research
Deposited On:2017-05-26
Last Modified:2022-08-29
Downloads:126 View Download Statistics

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