Analysis of D1853N ATM polymorphism in radiosensitive patients with cervical carcinoma

Acta Medica (Hradec Kralove). 2011;54(3):111-6. doi: 10.14712/18059694.2016.31.

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.

The aims of our study were: (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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ataxia Telangiectasia Mutated Proteins
  • Carcinoma, Squamous Cell / genetics*
  • Carcinoma, Squamous Cell / radiotherapy
  • Cell Cycle Proteins / genetics*
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Middle Aged
  • Mutagenesis, Site-Directed
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Protein Serine-Threonine Kinases / genetics*
  • Radiation Tolerance / genetics*
  • Sequence Analysis, DNA
  • Sequence Homology, Nucleic Acid
  • Tumor Suppressor Proteins / genetics*
  • Uterine Cervical Neoplasms / genetics*
  • Uterine Cervical Neoplasms / radiotherapy

Substances

  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Tumor Suppressor Proteins
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Protein Serine-Threonine Kinases