Identification of 127 amino acid substitution variants in screening 37 DNA repair genes in humans.

@article{Mohrenweiser2002IdentificationO1,
  title={Identification of 127 amino acid substitution variants in screening 37 DNA repair genes in humans.},
  author={Harvey W. Mohrenweiser and Tong Xi and Johana V{\'a}zquez-Mat{\'i}as and Irene M. Jones},
  journal={Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology},
  year={2002},
  volume={11 10 Pt 1},
  pages={1054-64}
}
The repair of damaged DNA requires the function of multiple proteins in generally damage-specific, nonredundant pathways. The relationship of DNA repair to cancer susceptibility is obvious in "cancer families," in which low frequency, high penetrance, loss-of-function variant alleles of genes with roles in the repair of damaged DNA have been associated with a high risk of disease. More important for the cancer incidence in the general population, many individuals exhibit reduced (60-75% of… CONTINUE READING

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