title: ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.
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.
authors.affiliation: Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK.
authors.forename: Anthony
authors.initials: A
authors.lastname: Renwick
authors.forename: Deborah
authors.initials: D
authors.lastname: Thompson
authors.forename: Sheila
authors.initials: S
authors.lastname: Seal
authors.forename: Patrick
authors.initials: P
authors.lastname: Kelly
authors.forename: Tasnim
authors.initials: T
authors.lastname: Chagtai
authors.forename: Munaza
authors.initials: M
authors.lastname: Ahmed
authors.forename: Bernard
authors.initials: B
authors.lastname: North
authors.forename: Hiran
authors.initials: H
authors.lastname: Jayatilake
authors.forename: Rita
authors.initials: R
authors.lastname: Barfoot
authors.forename: Katarina
authors.initials: K
authors.lastname: Spanova
authors.forename: Lesley
authors.initials: L
authors.lastname: McGuffog
authors.forename: D Gareth
authors.initials: DG
authors.lastname: Evans
authors.forename: Diana
authors.initials: D
authors.lastname: Eccles
authors.forename: Douglas F
authors.initials: DF
authors.lastname: Easton
authors.forename: Michael R
authors.initials: MR
authors.lastname: Stratton
authors.forename: Nazneen
authors.initials: N
authors.lastname: Rahman
mesh_terms: D000483:Alleles; D001260:Ataxia Telangiectasia / Q000235:genetics*; D064007:Ataxia Telangiectasia Mutated Proteins; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D018797:Cell Cycle Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases