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

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Blackburn, NB, Marthick, JR, Banks, A, Charlesworth, JC ORCID: 0000-0001-6201-3518, Marsden, KA, Lowenthal, RM, Blangero, J and Dickinson, JL ORCID: 0000-0003-4621-1703 2017 , 'Evaluating a CLL susceptibility variant in ITGB2 in families with multiple sub-types of hematological malignancies' , Blood, vol. 130, no. 1 , pp. 86-88 , doi: 10.1182/blood-2017-03-774232.

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Abstract

The application of rapid and affordable genome sequencing technologies to families with a highincidence of hematological malignancies (HMs) provides significant opportunities for understanding thegenetic causes of these cancers.1 In one of the few studies published to date using this approach, Goldinet al recently reported that a rare variant (rs2230531) within ITGB2 is associated with geneticpredisposition to chronic lymphocytic leukemia (CLL).2 In this study whole exome sequencing (WES) wasperformed in a discovery set of 20 high-risk CLL families. Analysis proceeded on a ‘per family basis’, toidentify rare (minor allele frequency (MAF) ITGB2 and rs201725177 in SWI5.

Item Type: Article
Authors/Creators:Blackburn, NB and Marthick, JR and Banks, A and Charlesworth, JC and Marsden, KA and Lowenthal, RM and Blangero, J and Dickinson, JL
Keywords: haematology, cancer, genetics
Journal or Publication Title: Blood
Publisher: Amer Soc Hematology
ISSN: 0006-4971
DOI / ID Number: 10.1182/blood-2017-03-774232
Copyright Information:

Copyright 2017 American Society of Hematology

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