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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay.

We used a modified colony survival assay to measure the sensitivity to ionizing radiation of more than 50 lymphoblastoid cell lines from normal individuals and from patients with ataxia-telangiectasia, Nijmegen breakage syndrome variants, and X-linked agammaglobulinemia. All of these disorders are associated with an increased frequency of cancer. Lymphoblastoid cell lines from patients with ataxia-telangiectasia complementation groups A, C, D, and E; ATFresno; Nijmegen breakage syndrome variants V1 and V2; and X-linked agammaglobulinemia showed marked radiosensitivity, whereas ataxia-telangiectasia heterozygotes were similar to controls. Friedreich's ataxia is not associated with increased cancer risk; lymphoblastoid cell lines from two such patients showed normal radiosensitivity. Taken together, these results suggest that some forms of X-ray sensitivity and cancer susceptibility share a common mechanism, such as an enzyme that is necessary both for the repair of radiation damage to DNA and for gene rearrangements during V(D)J recombination.[1]

References

  1. Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay. Huo, Y.K., Wang, Z., Hong, J.H., Chessa, L., McBride, W.H., Perlman, S.L., Gatti, R.A. Cancer Res. (1994) [Pubmed]
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