Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours

Anne Reiman, V Srinivasan, G Barone, James Last, LL Wootton, EG Davies, MM Verhagen, MA Willemsen, CM Weemaes, Philip Byrd, L Izatt, DF Easton, DJ Thompson, Alexander Taylor

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76 Citations (Scopus)

Abstract

BACKGROUND: Immunodeficiency in ataxia telangiectasia (A-T) is less severe in patients expressing some mutant or normal ATM kinase activity. We, therefore, determined whether expression of residual ATM kinase activity also protected against tumour development in A-T. METHODS: From a total of 296 consecutive genetically confirmed A-T patients from the British Isles and the Netherlands, we identified 66 patients who developed a malignant tumour; 47 lymphoid tumours and 19 non-lymphoid tumours were diagnosed. We determined their ATM mutations, and whether cells from these patients expressed any ATM with residual ATM kinase activity. RESULTS: In childhood, total absence of ATM kinase activity was associated, almost exclusively, with development of lymphoid tumours. There was an overwhelming preponderance of tumours in patients
Original languageEnglish
Pages (from-to)586-591
Number of pages6
JournalBritish Journal of Cancer
Volume105
Issue number4
DOIs
Publication statusPublished - 1 Aug 2011

Keywords

  • breast cancer
  • ATM kinase
  • lymphoma
  • ataxia telangiectasia
  • ATM

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