Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia.


Rudd, MF; Sellick, GS; Webb, EL; Catovsky, D; Houlston, RS; (2006) Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia. Blood, 108 (2). pp. 638-44. ISSN 0006-4971 DOI: https://doi.org/10.1182/blood-2005-12-5022

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Abstract

We conducted a large-scale association study to identify low-penetrance susceptibility alleles for chronic lymphocytic leukemia (CLL), analyzing 992 patients and 2707 healthy controls. To increase the likelihood of identifying disease-causing alleles we genotyped 1467 coding nonsynonymous single nucleotide polymorphisms (nsSNPs) in 865 candidate cancer genes, biasing nsSNP selection toward those predicted to be deleterious. Preeminent associations were identified in SNPs mapping to genes pivotal in the DNA damage-response and cell-cycle pathways, including ATM F858L (odds ratio [OR] = 2.28, P < .0001) and P1054R (OR = 1.68, P = .0006), CHEK2 I157T (OR = 14.83, P = .0008), BRCA2 N372H (OR = 1.45, P = .0032), and BUB1B Q349R (OR = 1.42, P = .0038). Our findings implicate variants in the ATM-BRCA2-CHEK2 DNA damage-response axis with risk of CLL.

Item Type: Article
Faculty and Department: Faculty of Epidemiology and Population Health > Dept of Infectious Disease Epidemiology
PubMed ID: 16574953
Web of Science ID: 239129500041
URI: http://researchonline.lshtm.ac.uk/id/eprint/2424

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