Enhanced radiation late effects and cellular radiation sensitivity in an ATM heterozygous breast cancer patient. |
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Authors: | S Varghese R K Schmidt-Ullrich A Dritschilo M Jung |
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Affiliation: | Department of Radiation Medicine, Georgetown University Medical School, Washington, District of Columbia, USA. |
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Abstract: | We observed severe late effects in a patient treated with radiation therapy for breast cancer. Radiation survival studies of patient fibroblasts show an enhanced cellular radiation sensitivity (Do = 0.95 Gy). Genetic analysis reveals that the patient is heterozygous for a mutated ATM gene. Protein truncation test (PTT) and sequence analysis identified a truncation within the leucine zipper domain, corresponding to a fragment previously reported to exhibit dominant negative function. These findings demonstrate that ATM heterozygosity may be associated with enhanced clinical radiation sensitivity and suggest a clinical relevance to this truncation that results in a dominant negative-acting protein. |
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