Research Article

Screening breast cancer patients for ATM mutations and polymorphisms by using denaturing high-performance liquid chromatography

  1. David P. Atencio1,
  2. Christopher M. Iannuzzi1,
  3. Sheryl Green1,
  4. Richard G. Stock1,
  5. Jonine L. Bernstein2,
  6. Barry S. Rosenstein1,2,3,4,*

Article first published online: 29 OCT 2001

DOI: 10.1002/em.1072

Issue

Environmental and Molecular Mutagenesis

Environmental and Molecular Mutagenesis

Special Issue: A Richard B. Setlow Festschrift

Volume 38, Issue 2-3, pages 200–208, 2001

Additional Information

How to Cite

Atencio, D. P., Iannuzzi, C. M., Green, S., Stock, R. G., Bernstein, J. L. and Rosenstein, B. S. (2001), Screening breast cancer patients for ATM mutations and polymorphisms by using denaturing high-performance liquid chromatography. Environmental and Molecular Mutagenesis, 38: 200–208. doi: 10.1002/em.1072

Author Information

  1. 1

    Department of Radiation Oncology, Mount Sinai School of Medicine, New York, New York

  2. 2

    Department of Community & Preventive Medicine, Mount Sinai School of Medicine, New York, New York

  3. 3

    Department of Dermatology, Mount Sinai School of Medicine, New York, New York

  4. 4

    Department of Radiation Oncology, New York University School of Medicine, New York, New York

*Department of Radiation Oncology, Box 1236, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029

Publication History

  1. Issue published online: 29 OCT 2001
  2. Article first published online: 29 OCT 2001

Funded by

  • Breast Cancer Research Fund of the Department of Defense. Grant Number: DAMD17-97-1-7208

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Keywords:

  • African American;
  • ATM;
  • breast cancer;
  • DHPLC;
  • mutations;
  • polymorphisms

Abstract

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. Environ. Mol. Mutagen. 38:200–208, 2001. © 2001 Wiley-Liss, Inc.

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