title: Aneuploidy-cancer predisposition syndromes: a new link between the mitotic spindle checkpoint and cancer.
abstract: Genetic cancer predisposition syndromes have been crucial to the identification of genes and pathways involved in carcinogenesis. Constitutional gene mutations segregating with distinctive cancer phenotypes provide unequivocal evidence of a gene's causal role in cancer. This type of evidence has been central in proving that oncogenes and tumor suppressor genes can cause human cancers, but has been lacking for genes implicated in generating aneuploidy. However, recently we identified mutations in the mitotic checkpoint gene BUB1B in an autosomal recessive condition characterized by mosaic aneuploidies and childhood cancers. This finding strongly suggests that aneuploidy is causally related to cancer development.
authors.affiliation: Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
authors.forename: Sandra
authors.initials: S
authors.lastname: Hanks
authors.forename: Nazneen
authors.initials: N
authors.lastname: Rahman
mesh_terms: D000782:Aneuploidy; D018797:Cell Cycle Proteins / Q000235:genetics* / Q000502:physiology; D004273:DNA, Neoplasm / Q000235:genetics / Q000502:physiology; D015972:Gene Expression Regulation, Neoplastic; D016147:Genes, Tumor Suppressor / Q000502:physiology; D018816:Genes, cdc; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000235:genetics* / Q000503:physiopathology; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics / Q000503:physiopathology; D009857:Oncogenes; D011003:Ploidies; D011494:Protein Kinases / Q000235:genetics / Q000502:physiology; D017346:Protein Serine-Threonine Kinases; D015398:Signal Transduction / Q000235:genetics / Q000502:physiology
chemical_list: D018797:Cell Cycle Proteins; D004273:DNA, Neoplasm; D011494:Protein Kinases; C090464:Bub1 spindle checkpoint protein; D017346:Protein Serine-Threonine Kinases