publication . Article . 2002

Recombinational DNA repair and human disease

Larry H. Thompson; David Schild;
Open Access
  • Published: 01 Nov 2002
Abstract
We review the genes and proteins related to the homologous recombinational repair (HRR) pathway that are implicated in cancer through either genetic disorders that predispose to cancer through chromosome instability or the occurrence of somatic mutations that contribute to carcinogenesis. Ataxia telangiectasia (AT), Nijmegen breakage syndrome (NBS), and an ataxia-like disorder (ATLD), are chromosome instability disorders that are defective in the ataxia telangiectasia mutated (ATM), NBS, and Mre11 genes, respectively. These genes are critical in maintaining cellular resistance to ionizing radiation (IR), which kills largely by the production of double-strand bre...
Subjects
Medical Subject Headings: congenital, hereditary, and neonatal diseases and abnormalities
free text keywords: Genetics, Health, Toxicology and Mutagenesis, Molecular Biology, Biology, DNA repair, Nijmegen breakage syndrome, medicine.disease, medicine, Bloom syndrome, Ataxia-telangiectasia, Chromosome breakage, Ataxia telangiectasia and Rad3 related, RAD51, Homologous recombination
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