ATM Mutations and the Development of Severe Radiation-Induced Morbidity Following Radiotherapy for Breast Cancer
Abstract
The hypothesis being tested in this project is that a greater proportion of patients who develop radiation-induced subcutaneous late tissue morbidity possess a variant allele in the ATM gene compared with patients who do not suffer these complications. An additional objective is to determine the functional impact upon the protein encoded by the ATM gene for each genetic alteration identified and subsequent cellular radiosensitivity. The specific aims of this project are to (1) screen 50 breast cancer patients for ATM genetic alterations who developed radiation induced late subcutaneous tissue morbidity, (2) establish a control group and screen 100 patients without evidence of this late radiation reaction, and (3) perform functional studies using cells from patients identified as ATM carriers to determine to what extent each ATM variant identified affects radiosensitivity and normal activity of the protein produced by the ATM gene. The main accomplishment during the second year of this study was to accrue a total of 104 patients into this study and complete a full DHPLC screening of the ATM gene in each of these subjects. In addition, functional studies were performed with a series of wild type, AT and ATM heterozygote cell lines to measure the ATM kinase activity in these cells.
Document Details
- Document Type
- Technical Report
- Publication Date
- Jul 01, 2004
- Accession Number
- ADA428237
Entities
People
- Barry S. Rosenstein
Organizations
- Icahn School of Medicine at Mount Sinai