Screening for ATM Mutations in an African-American Population to Identify a Predictor of Breast Cancer Susceptibility

Abstract

The hypothesis being tested in this project is that a greater proportion of African-Americans with breast cancer harbor a specific germline genetic alteration in the ATM gene or possess a particular ATM haplotype compared to African-American women without breast cancer. An additional objective is to determine the functional impact upon the protein encoded by the ATM gene for each mutation identified. Specific Aims: The specific aims of this project are to (1) screen 100 African-American breast cancer patients and 100 African-American women without breast cancer and (2) perform functional studies using cells from patients identified as ATM carriers to determine whether each ATM genetic variant identified affects radiosensitivity and levels of the protein encoded by the ATM gene for each mutation examined.

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Document Details

Document Type
Technical Report
Publication Date
Jul 01, 2006
Accession Number
ADA458231

Entities

People

  • Barry S. Rosenstein

Organizations

  • Icahn School of Medicine at Mount Sinai

Tags

DTIC Thesaurus Topics

  • African Americans
  • Amino Acids
  • Biomedical Research
  • Breast Cancer
  • Cell Line
  • Cells
  • Department Of Defense
  • Diseases And Disorders
  • Genetic Variation
  • Genetics
  • Mutations
  • Neoplasms
  • New York
  • Radiation Oncology
  • Skin Diseases
  • Statistical Analysis
  • X Rays

Readers

  • Molecular and genetic basis of cancer.
  • Women's Health and Cancer Risk Research: African American Women and Pregnancy Outcomes.

Technology Areas

  • Biotechnology