|
|
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.
 Previous Article | Table of Contents | Next Article 
NEOPLASIA
Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia
Matthew F. Rudd,
Gabrielle S. Sellick,
Emily L. Webb,
Daniel Catovsky, and
Richard S. Houlston
From the Sections of Cancer Genetics and Haemato-Oncology, Institute of Cancer Research, Sutton, Surrey, United Kingdom.
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.
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
Related Article in Blood Online:
-
Chips, candidate genes, and CLL
- Neil Caporaso
Blood 2006 108: 415-416.
[Full Text]
[PDF]
This article has been cited by other articles:
|
|
|
|
 
C. Cybulski, B. Masojc, D. Oszutowska, E. Jaworowska, T. Grodzki, P. Waloszczyk, P. Serwatowski, J. Pankowski, T. Huzarski, T. Byrski, et al.
Constitutional CHEK2 mutations are associated with a decreased risk of lung and laryngeal cancers
Carcinogenesis,
April 1, 2008;
29(4):
762 - 765.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
B. Frank, M. Wiestler, S. Kropp, K. Hemminki, A. B. Spurdle, C. Sutter, B. Wappenschmidt, X. Chen, J. Beesley, J. L. Hopper, et al.
Association of a Common AKAP9 Variant With Breast Cancer Risk: A Collaborative Analysis
J Natl Cancer Inst,
March 19, 2008;
100(6):
437 - 442.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
G. S. Sellick, R. Wade, S. Richards, D. G. Oscier, D. Catovsky, and R. S. Houlston
Scan of 977 nonsynonymous SNPs in CLL4 trial patients for the identification of genetic variants influencing prognosis
Blood,
February 1, 2008;
111(3):
1625 - 1633.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
P. J. Hayden, P. Tewari, D. W. Morris, A. Staines, D. Crowley, A. Nieters, N. Becker, S. de Sanjose, L. Foretova, M. Maynadie, et al.
Variation in DNA repair genes XRCC3, XRCC4, XRCC5 and susceptibility to myeloma
Hum. Mol. Genet.,
December 15, 2007;
16(24):
3117 - 3127.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
N. Johnson, O. Fletcher, C. Palles, M. Rudd, E. Webb, G. Sellick, I. dos Santos Silva, V. McCormack, L. Gibson, A. Fraser, et al.
Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility
Hum. Mol. Genet.,
May 1, 2007;
16(9):
1051 - 1057.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
L. R. Goldin and S. L. Slager
Familial CLL: Genes and Environment
Hematology,
January 1, 2007;
2007(1):
339 - 345.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
C Cybulski, D Wokolorczyk, T Huzarski, T Byrski, J Gronwald, B Gorski, T Debniak, B Masojc, A Jakubowska, B Gliniewicz, et al.
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer
J. Med. Genet.,
November 1, 2006;
43(11):
863 - 866.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
C. Cybulski, B. Gorski, T. Huzarski, T. Byrski, J. Gronwald, T. Debniak, D. Wokolorczyk, A. Jakubowska, E. Kowalska, O. Oszurek, et al.
CHEK2-Positive Breast Cancers in Young Polish Women.
Clin. Cancer Res.,
August 15, 2006;
12(16):
4832 - 4835.
[Abstract]
[Full Text]
[PDF]
|
|
|
| |
