Screening for Ataxia-Telangiectasia Mutations in a Population-Based Sample of Women With Early-Onset Breast Cancer
Abstract
We are assessing whether a mutated allele of the Ataxia-telangiectasia gene, ATM, is a genetic risk factor for breast cancer, by screening for ATM mutations in patients with early- onset breast cancer. These patients were derived from a large population-based, case-control study of primary breast cancer in Western Washington. We are screening genomic DNAs by SSCP (single strand conformation polymorphism) analysis of the 62 coding exons amplified by multiplex PCR. In 142 early-onset breast cancer cases, we have found no truncation or deletion mutations in the ATM gene. We have detected 6 types of possible missense or splicing mutations and 16 types of rare variants. Most notably, Ser707Pro occurs in 6 cases and only 1 control. The numbers screened to date are still small, and some observed variants may, in fact, be mutations. We plan to increase screening efficiency and expand significantly the number of cases to be screened. Assessment of the prevalence of ATM mutations in breast cancer patients and controls has implications for diagnosis and treatment, given the estimated frequency of AT carriers of 1.4% and their possible hypersensitivity to standard therapeutic doses of radiation.
Document Details
- Document Type
- Technical Report
- Publication Date
- Sep 01, 1998
- Accession Number
- ADB241196
Entities
People
- Sharon Teraoka