dc.contributor.author | Matutes, E | |
dc.date.accessioned | 2018-07-10T11:35:27Z | |
dc.date.issued | 2012-01 | |
dc.identifier | http://publications.icr.ac.uk/11428/ | |
dc.identifier.citation | HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2012, 97 (1), pp. 142 - 146 | |
dc.identifier.issn | 0390-6078 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/2014 | |
dc.description.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. | |
dc.format.extent | 142 - 146 | |
dc.language | eng | |
dc.language.iso | eng | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
dc.subject | sickle cell disease nephropathy hemolysis kidney ataxia-telangiectasia families class switch recombination b-cell lymphocytosis mutation status somatic hypermutation gene cancer risk pathogenesis lymphoma | |
dc.title | 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 | |
dc.type | Journal Article | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0 | |
rioxxterms.licenseref.startdate | 2012-01 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | HAEMATOLOGICA-THE HEMATOLOGY JOURNAL | |
pubs.issue | 1 | |
pubs.notes | ISI Document Delivery No.: 886RC Times Cited: 0 Cited Reference Count: 24 Skowronska, Anna Austen, Belinda Powell, Judith E. Weston, Victoria Oscier, David G. Dyer, Martin J. S. Matutes, Estella Pratt, Guy Fegan, Christopher Moss, Paul Taylor, Malcolm A. Stankovic, Tatjana Leukaemia Lymphoma Research UK; Cancer Research UK this work was supported by the Leukaemia Lymphoma Research UK and Cancer Research UK. Ferrata storti foundation Pavia | |
pubs.notes | Not known | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Clinical Studies | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Clinical Studies/Molecular Haematology (including Cytogenetics Group and Cell Markers) | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular Haematology (including Cytogenetics Group and Cell Markers) | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Clinical Studies | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Clinical Studies/Molecular Haematology (including Cytogenetics Group and Cell Markers) | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular Haematology (including Cytogenetics Group and Cell Markers) | |
pubs.volume | 97 | |
pubs.embargo.terms | Not known | |
icr.researchteam | Molecular Haematology (including Cytogenetics Group and Cell Markers) | en_US |
dc.contributor.icrauthor | Matutes, Estella | |