Abstract
We screened individuals from 443 familial breast cancer pedigrees and 521 controls for ATM sequence variants and identified 12 mutations in affected individuals and two in controls (P = 0.0047). The results demonstrate that ATM mutations that cause ataxia-telangiectasia in biallelic carriers are breast cancer susceptibility alleles in monoallelic carriers, with an estimated relative risk of 2.37 (95% confidence interval (c.i.) = 1.51-3.78, P = 0.0003). There was no evidence that other classes of ATM variant confer a risk of breast cancer.
Publication types
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, Non-P.H.S.
MeSH terms
-
Alleles
-
Ataxia Telangiectasia / genetics*
-
Ataxia Telangiectasia Mutated Proteins
-
Breast Neoplasms / genetics*
-
Case-Control Studies
-
Cell Cycle Proteins / genetics*
-
DNA-Binding Proteins / genetics*
-
Female
-
Genetic Predisposition to Disease
-
Humans
-
Male
-
Mutation*
-
Pedigree
-
Protein Serine-Threonine Kinases / genetics*
-
Tumor Suppressor Proteins / genetics*
Substances
-
Cell Cycle Proteins
-
DNA-Binding Proteins
-
Tumor Suppressor Proteins
-
ATM protein, human
-
Ataxia Telangiectasia Mutated Proteins
-
Protein Serine-Threonine Kinases