Genetic susceptibility to radiation and chemotherapy injury: diagnosis and management

Acute radiation reaction and local control in breast cancer patients treated with postmastectomy radiotherapy

“…A well-known syndrome is ataxia telangiectasia (AT, Louis-Bar syndrome), which is characterized by certain clinical features and chromosomal instability. Recent clinical investigations have also proven the existence of interindividual variations in normal tissue radiosensitivity among clinically normal individuals [2,7,19]. Moreover, correlations between in vitro radiosensitivity testing of fibroblasts or lymphocytes and clinical radiation reactions have been observed [4,10,11,14,15,20].…”

“…Mammakarzinom 9 Akute Nebenwirkungen T he radiation tolerance of normal tissue is influenced by several well-known factors such as total dose, irradiated volume, fraction size and interfraction interval. In the last years, interindividual variations in radiosensitivity have also been identified as a cause of different radiation reactions [4,6,7,15,[18][19][20]. They have, however, up to now little clinical relevance, except some rare genetic disorders like ataxia telangiectasia [13].…”

Attenuated presentation of ataxia-telangiectasia with familial cancer history

“…His medical history began at age 14 with slowly progressnormal < 10) when it was tested at age 42. Lymphocyte cytogenetic analysis showed rearrangements of chromosomes 7 and 14 (inv(7) [2], t(7;14) [1], inv(14) [2]), together with rearrangements of other chromosomes.…”

A Pilot Case-Control Study of Gamma-Radiation Sensitivity and Risk of Papillary Thyroid Cancer

“…Deficient repair of DNA double-strand breaks, resulting in an abnormally high frequency of chromosomal aberrations-including breaks, deletions, and reciprocal translocations-after exposure to radiation, appears to be associated with a predisposition to cancer (20). Efficiency of DNA-repair is critical to the maintenance of genomic stability, and syndromes associated with chromosome instability predispose individuals to cancer (21). Hsu et al (22) developed an in vitro mutagensensitivity assay which measures induced chromatid breaks in peripheral blood lymphocytes (PBLs) after exposure to bleomycin, a radiomimetic mutagen, that causes DNA strand breaks, leading to chromatid breaks.…”