title: Familial retinoblastoma and ataxia telangiectasia: human models for the study of DNA damage and repair.
abstract: A variety of genetic diseases are associated with a high incidence of malignant tumors as compared to the general population. Laboratory data are presented that suggest that the increased cancer incidence in ataxia telangiectasia and familial retinoblastoma patients may be related to deficiencies in the normal DNA repair processes in their cells. Finally, we offer a hypothesis regarding the types of possible repair defects involved in these diseases and the biological consequences of such defects.
mesh_terms: D001260:Ataxia Telangiectasia / Q000150:complications* / Q000378:metabolism; D002471:Cell Transformation, Neoplastic; D004260:DNA Repair / Q000528:radiation effects; D004273:DNA, Neoplasm / Q000378:metabolism; D005134:Eye Neoplasms / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008954:Models, Biological; D012175:Retinoblastoma / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D012854:Sister Chromatid Exchange
chemical_list: D004273:DNA, Neoplasm