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All 62 coding exons of the ATM gene, along with 10-20 bases of the intronic region flanking each exon, were screened for DNA base sequence alterations by using denaturing high-performance liquid chromatography (DHPLC) in a series of 52 breast cancer patients. Six (12%) of these patients exhibited a total of eight different novel germ-line mutations that do not represent common polymorphisms. Of these, three patients possessed four nonconservative missense mutations while two conservative missense and two synonymous mutations were detected in the other three patients. In addition, 43 patients were found to have a total of 141 DNA sequence variations representing 21 different common polymorphisms and rare variants. An analysis of the relationship between the presence of a novel ATM mutation and either patient demographics or tumor properties demonstrated a significant difference between African Americans (3/7 = 43%) and other ethnic groups (3/45 = 7%, P = 0.026). None of the other characteristics examined was found to be related to mutation status.


Journal article


Environ Mol Mutagen

Publication Date





200 - 208


Adult, Aged, Aged, 80 and over, Ataxia Telangiectasia Mutated Proteins, Breast Neoplasms, Cell Cycle Proteins, Chromatography, High Pressure Liquid, DNA-Binding Proteins, Female, Genetic Testing, Humans, Middle Aged, Mutation, Polymorphism, Genetic, Protein-Serine-Threonine Kinases, Tumor Suppressor Proteins