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Cellular Defenses Against Radiation-Induced Carcinogenesis:

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Mutations in Chk2 produce the Li-Fraumeni<br />

phenotype<br />

Family pedigree with proband (1265, arrow) diagnosed with both breast cancer and sarcoma. A<br />

heterozygous germline mutation in CHK2 is accompanied by loss of the wild type CHK2 allele<br />

in breast cancer of the proband. The mutant R145W allele encodes and unstable protein.<br />

(S.B. Lee et al. Cancer Res. 61: 8062, 2001)<br />

NCI REB <strong>Radiation</strong> Epidemiology Course, May 14, 2007<br />

TJJ

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