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.1 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).2 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 Type:	Refereed Article
Keywords:	haematology, cancer, genetics
Research Division:	Medical and Health Sciences
Research Group:	Clinical Sciences
Research Field:	Medical Genetics (excl. Cancer Genetics)
Objective Division:	Health
Objective Group:	Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:	Cancer and Related Disorders
Author:	Blackburn, NB (Mr Nicholas Blackburn)
Author:	Marthick, JR (Mr James Marthick)
Author:	Banks, A (Mrs Annette Banks)
Author:	Charlesworth, JC (Dr Jac Charlesworth)
Author:	Lowenthal, RM (Professor Ray Lowenthal)
Author:	Dickinson, JL (Associate Professor Joanne Dickinson)
ID Code:	116978
Year Published:	2017
Funding Support:	Australian Research Council (FT120100623)
Web of Science® Times Cited:	1
Deposited By:	Menzies Institute for Medical Research
Deposited On:	2017-05-26
Last Modified:	2018-02-27
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