title: Analysis of D1853N ATM polymorphism in radiosensitive patients with cervical carcinoma.
abstract: Clinical oncologists have been focusing their efforts on attempting to define risk groups of patients with unusual biological reactions to the recommended therapy regimens using molecular biology techniques.
  
  
  OBJECTIVE
  (i) to find a design and validate a method for fast and reliable analysis of the D1853N (5557G>A) genetic polymorphism in the ATM (ataxia-telangiectasia mutated) gene; (ii) to use side-directed mutagenesis to generate ATM 5557A-positive DNA (reference ATM5557A DNA); and (iii) to analyze a group of patients suffering from cervical carcinoma with adverse responses to radiotherapy. The 5557A variant was found in three of twenty women (15%). Our data show that the prevalence of the 5557A allelic variant in cervical cancer subjects with adverse responses after irradiation probably does not differ from the prevalence common in Caucasians. A larger population study should confirm these preliminary results.
authors.affiliation: Institute of Clinical Biochemistry and Diagnostics, Charles University in Prague, Faculty of Medicine and University Hospital Hradec Králové, Czech Republic. beranek@lfhk.cuni.cz
authors.forename: Martin
authors.initials: M
authors.lastname: Beránek
authors.forename: Monika
authors.initials: M
authors.lastname: Drastíková
authors.forename: Simona
authors.initials: S
authors.lastname: Paulíková
authors.forename: Igor
authors.initials: I
authors.lastname: Sirák
authors.forename: Milan
authors.initials: M
authors.lastname: Vosmik
authors.forename: Jirí
authors.initials: J
authors.lastname: Petera
mesh_terms: D000328:Adult; D064007:Ataxia Telangiectasia Mutated Proteins; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000532:radiotherapy; D018797:Cell Cycle Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D016297:Mutagenesis, Site-Directed; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D011836:Radiation Tolerance / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D002583:Uterine Cervical Neoplasms / Q000235:genetics* / Q000532:radiotherapy
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