title: XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility.
abstract: The XCIND syndrome is named after distinct hypersensitivity to ionizing (X-ray) irradiation, cancer susceptibility, immunodeficiency, neurological abnormality, and double-strand DNA breakage. The disorders comprising XCIND syndrome are usually inherited in an autosomal recessive manner. Ataxia telangiectasia (A-T) is one such disease, and is caused by biallelic germline mutation of the Ataxia telangiectasia mutated (ATM) gene. Heterozygous carriers of the ATM mutation, who do not show A-T-like clinical symptoms, are estimated to comprise 1 % of the population. Thus, understanding the biological basis of XCIND, including A-T, should help shed light on the pathogenesis of genetic diseases with cancer susceptibility.
authors.affiliation: Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Yushima 1-5-45, Bunkyo-Ku, Tokyo, Japan. skkmiz@gmail.com
authors.forename: Shuki
authors.initials: S
authors.lastname: Mizutani
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Takagi
mesh_terms: D000818:Animals; D001260:Ataxia Telangiectasia / Q000150:complications; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins / Q000235:genetics / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D004198:Disease Susceptibility; D030342:Genetic Diseases, Inborn / Q000150:complications*; D006801:Humans; D009369:Neoplasms / Q000209:etiology*; D049932:Nijmegen Breakage Syndrome / Q000150:complications; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000378:metabolism; D016511:Severe Combined Immunodeficiency / Q000150:complications; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000378:metabolism; D014965:X-Rays / Q000009:adverse effects
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases