Genetic disorders associated with cancer predisposition and genomic instability.

作者: Carina J. Vessey , Christopher J. Norbury , Ian D. Hickson

DOI: 10.1016/S0079-6603(08)60723-0

关键词: Xeroderma pigmentosumCarcinogenesisAtaxia-telangiectasiaBiologyCancerAneuploidyGeneticsPopulationNijmegen breakage syndromeGenome instability

摘要: Genomic instability in its broadest sense is a feature of virtually all neoplastic cells. In addition to the mutations and/or gene amplifications that appear be prerequisite for acquisition phenotype, human cancers exhibit other "markers" genomic instability--in particular, high degree aneuploidy. Indeed, many studies have shown aneuploidy an almost invariant cancer cells, and it has been argued by some emergence aneuploid cells necessary step during tumorigenesis. The functional link between strengthened existence several "genetic instability" disorders humans are associated with moderate severe increase incidence cancers. These include ataxia telangiectasia, Bloom's syndrome, Fanconi anemia, xeroderma pigmentosum, Nijmegen breakage which very rare inherited recessive manner. Analysis from such cancer-prone individuals clearly potentially fruitful approach delineating genetic basis genome. It assumed identifying underlying cause these disorders, one can derive valuable information not only about particular diseases, but also causes sporadic general population. this article, we review clinical cellular properties predisposition. focus on rapid advances made our understanding derived cloning genes mutated each case. Because instances affected analogs lower eukaryotic species, shall discuss how yeasts proved diseases predisposition cancer.

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