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Blood, 15 July 2006, Vol. 108, No. 2, pp. 638-644.
Prepublished online as a Blood First Edition Paper on March 30, 2006; DOI 10.1182/blood-2005-12-5022.
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Submitted December 20, 2005
Accepted February 22, 2006
Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukaemia
Matthew F Rudd, Gabrielle S Sellick, Emily L Webb, Daniel Catovsky, and Richard S Houlston*
Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
Section of Haemato-Oncology, Institute of Cancer Research, Sutton, Surrey, United Kingdom
* Corresponding author; email: richard.houlston{at}icr.ac.uk.
We conducted a large-scale association study to identify low penetrance susceptibility alleles for chronic lymphocytic leukaemia (CLL), analyzing 992 cases and 2,707 controls. To increase the likelihood of identifying disease-causing alleles we genotyped 1,467 coding non-synonymous single nucleotide polymorphisms (nsSNPs) in 865 candidate cancer genes, biasing nsSNP selection towards those predicted to be deleterious. Pre-eminent associations were identified in SNPs mapping to genes pivotal in the DNA damage-response and cell-cycle pathways, including ATM F858L (OR = 2.28, P = 3.1 x 10-5) and P1054R (OR = 1.68, P = 6.0 x 10-4), CHEK2 I157T (OR = 14.83, P = 8.0 x 10-4), BRCA2 N372H (OR = 1.45, P = 0.0032), and BUB1B R349Q (OR = 1.42, P = 0.0038). Our findings implicate variants in the ATM-BRCA2-CHEK2 DNA damage-response axis with risk of CLL.
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