title: Chromosome changes connect immunodeficiency and cancer in ataxia-telangiectasia.
abstract: Ataxia-telangiectasia (AT) is a primary genetic immunodeficiency disease predisposing to cancer. Approximately 40% of patients with AT develop malignancy, usually of the lymphoid system. Increased chromosome breakage in AT leads to rearrangements such as translocations and inversions. The preferred chromosome breakpoints in AT involve genes in the immune system: the immunoglobulin (Ig) gene loci in chromosome bands 2p12, 14q32, and 22q11 and the T cell receptor (TCR) gene loci in chromosome bands 7p13, 7q35, and 14q11. Identical chromosome breakpoints are observed in chromosome rearrangements in normal T cells, Burkitt's lymphoma, and adult T cell leukemia. Molecular analysis of these chromosome rearrangements reveals recombination between an oncogene and Ig or between Ig and TCR. In AT, chromosome rearrangements connect the immune system to lymphoid cancer.
mesh_terms: D000328:Adult; D001260:Ataxia Telangiectasia / Q000235:genetics*; D002051:Burkitt Lymphoma / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002883:Chromosomes, Human, Pair 14; D006801:Humans; D007938:Leukemia / Q000235:genetics; D008957:Models, Genetic; D009369:Neoplasms / Q000235:genetics*; D011995:Recombination, Genetic; D013601:T-Lymphocytes / Q000648:ultrastructure; D014178:Translocation, Genetic