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ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
- Source :
- Nature Genetics. 38:873-875
- Publication Year :
- 2006
- Publisher :
- Springer Science and Business Media LLC, 2006.
-
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.
- Subjects :
- Male
PALB2
Breast Neoplasms
Cell Cycle Proteins
Ataxia Telangiectasia Mutated Proteins
Protein Serine-Threonine Kinases
Biology
medicine.disease_cause
Ataxia Telangiectasia
Breast cancer
Genetics
medicine
Genetic predisposition
Humans
Genetic Predisposition to Disease
Allele
Alleles
Mutation
Tumor Suppressor Proteins
BRIP1
Case-control study
medicine.disease
Pedigree
DNA-Binding Proteins
Case-Control Studies
Immunology
Ataxia-telangiectasia
Cancer research
Female
Subjects
Details
- ISSN :
- 15461718 and 10614036
- Volume :
- 38
- Database :
- OpenAIRE
- Journal :
- Nature Genetics
- Accession number :
- edsair.doi.dedup.....15bd1b7b966dea764923369912bd87aa