Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/11823
Title: ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele
Authors: Skowronska, A.
Austen, B.
Weston, V.
Pratt, G.
Moss, P.
Taylor, M. A.
Stankovic, T.
Powell, J. E.
Oscier, D. G.
Dyer, M. J. S.
Matutes, E.
Fegan, C.
First Published: 1-Jan-2012
Publisher: Ferrata Storti Foundation with European Hematology Association
Citation: Haematologica, 2012, 97 (1), pp. 142-146
Abstract: Ataxia telangiectasia patients, with constitutional bi-allelic ATM mutations, have a marked risk of lymphoid tumors and ATM mutation carriers have a smaller risk of cancer. Sporadic ATM mutations occur in 10–20% of chronic lymphocytic leukemia and are often associated with chromosome 11q deletions which cause loss of an ATM allele. The role of constitutional ATM mutations in the pathogenesis of chronic lymphocytic leukemia is unknown. Here we investigated the frequency of constitutional ATM mutations in either of two chronic lymphocytic leukemia cohorts, those with and without a chromosome 11q deletion. We found that in comparison to controls, constitutional pathogenic ATM mutations were increased in patients with chromosome 11q deletions (6 of 140 vs. 0 of 281, P=0.001) but not in those without 11q deletions (2 of 178 vs. 0 of 281, P=0.15). These results suggest that ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but rather influences rapid disease progression through ATM loss.
DOI Link: 10.3324/haematol.2011.048827
ISSN: 0390-6078
eISSN: 1592-8721
Links: http://hdl.handle.net/2381/11823
http://www.haematologica.org/content/97/1/142
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © Ferrata Storti Foundation. Deposited with reference to the publisher’s archiving policy available on the SHERPA/RoMEO website.
Appears in Collections:Published Articles, Dept. of Cancer Studies and Molecular Medicine

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