ArticleHaematologica2012
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.
Article in Haematologica, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 39 citations in OpenAlex.
- Mutational Spectrum, Copy Number Changes, and Outcome: Results of a Sequencing Study of Patients With Newly Diagnosed Myeloma.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2015Trial
- Synthetic lethality in cancer: mechanisms, therapeutic exploitation and clinical translation.Signal transduction and targeted therapy · 2026Review
- Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes.Orphanet journal of rare diseases · 2025Article
- Rare germline ATM variants predispose to secondary cancer in chronic lymphocytic leukaemia patients.Cancer communications (London, England) · 2025Article
- The molecular map of CLL and Richter's syndrome.Seminars in hematology · 2024Review
- Rare GermlineJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- [Study of cytogenetics and molecular biology in typical and atypical immunophenotypic chronic lymphocytic leukemia].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2022Article
- Small Non-Coding RNAs in Leukemia.Cancers · 2022Review
- Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.Scientific reports · 2019Article
- ATM function and its relationship with ATM gene mutations in chronic lymphocytic leukemia with the recurrent deletion (11q22.3-23.2).Blood cancer journal · 2016Article
- Longitudinal copy number, whole exome and targeted deep sequencing of 'good risk' IGHV-mutated CLL patients with progressive disease.Leukemia · 2016Article
- Article
- Genomic Profile of Chronic Lymphocytic Leukemia in Korea Identified by Targeted Sequencing.PloS one · 2016Article
- Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting.Haematologica · 2015Article
- Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia.DNA repair · 2014Article
- ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.Haematologica · 2013Article
- Recent progress in mouse models for tumor suppressor genes and its implications in human cancer.Clinical Medicine Insights. Oncology · 2013Article
- Molecular pathogenesis of chronic lymphocytic leukemia.The Journal of clinical investigation · 2012Review
- Variations of the ataxia telangiectasia mutated gene in patients with chronic lymphocytic leukemia lack substantial impact on progression-free survival and overall survival: a Cancer and Leukemia Group B study.Leukemia & lymphoma · 2012Article
- ATM and chronic lymphocytic leukemia: mutations, and not only deletions, matter.Haematologica · 2012Article
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12 authors at 4 institutions in 1 country.
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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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.