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 language | English |
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Pages (from-to) | 586-591 |
Number of pages | 6 |
Journal | British Journal of Cancer |
Volume | 105 |
Issue number | 4 |
DOIs | |
Publication status | Published - 1 Aug 2011 |
Keywords
- breast cancer
- ATM kinase
- lymphoma
- ataxia telangiectasia
- ATM