Germline Mutations of the Ataxia-Telangiectasia Gene, ATM, as a Risk Factor for Radiation-Associated Breast Cancer
Abstract
Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by neurologic and other abnormalities as well as an approximately 100-fold increase in cancer incidence. A single gene, ATM, appears to be mutated in the majority of AT families. ATM functions as a central component of the cellular response to DNA damage. It has been postulated that heterozygotes for A T% mutations have an increased susceptibility to radiation-induced breast cancer. To test this hypothesis we performed a study to test the frequency of ATM mutations in woman with breast cancer after therapeutic radiation therapy for Hodgkin's disease. Cases were compared to matched controls treated for Hodgkin's disease with no breast cancer. We observed no truncating mutations ofATM in either group, and no difference in the rate of missense mutations (37% controls vs 21% cases).
Document Details
- Document Type
- Technical Report
- Publication Date
- Jul 01, 2000
- Accession Number
- ADA388564
Entities
People
- Kenneth Offit
Organizations
- Memorial Sloan Kettering Cancer Center