Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia
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 nuc...
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| Published in | Blood Vol. 108; no. 2; pp. 638 - 644 |
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| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
15.07.2006
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0006-4971 1528-0020 |
| DOI | 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. |
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| AbstractList | 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. 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.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. |
| Author | Catovsky, Daniel Sellick, Gabrielle S. Houlston, Richard S. Webb, Emily L. Rudd, Matthew F. |
| Author_xml | – sequence: 1 givenname: Matthew F. surname: Rudd fullname: Rudd, Matthew F. – sequence: 2 givenname: Gabrielle S. surname: Sellick fullname: Sellick, Gabrielle S. – sequence: 3 givenname: Emily L. surname: Webb fullname: Webb, Emily L. – sequence: 4 givenname: Daniel surname: Catovsky fullname: Catovsky, Daniel – sequence: 5 givenname: Richard S. surname: Houlston fullname: Houlston, Richard S. email: richard.houlston@icr.ac.uk |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/16574953$$D View this record in MEDLINE/PubMed |
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| Snippet | We conducted a large-scale association study to identify low-penetrance susceptibility alleles for chronic lymphocytic leukemia (CLL), analyzing 992 patients... |
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| SubjectTerms | Aged Ataxia Telangiectasia Mutated Proteins BRCA2 Protein - genetics Case-Control Studies Cell Cycle - genetics Cell Cycle Proteins - genetics Checkpoint Kinase 2 DNA Damage - genetics DNA Repair - genetics DNA-Binding Proteins - genetics Female Genetic Predisposition to Disease Genotype Humans Leukemia, Lymphocytic, Chronic, B-Cell - etiology Leukemia, Lymphocytic, Chronic, B-Cell - genetics Male Middle Aged Polymorphism, Single Nucleotide - genetics Polymorphism, Single Nucleotide - physiology Protein-Serine-Threonine Kinases - genetics Tumor Suppressor Proteins - genetics |
| Title | Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia |
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