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Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer

Tavtigian, Sean V., Oefner, Peter J., Babikyan, Davit, Hartmann, Anne, Healey, Sue, Le Calvez-Kelm, Florence, Lesueur, Fabienne, Byrnes, Graham B., Chuang, Shu-Chun, Forey, Nathalie, Feuchtinger, Corinna, Gioia, Lydie, Hall, Janet, Hashibe, Mia, Herte, Barbara, McKay-Chopin, Sandrine, Thomas, Alun, Vallée, Maxime P., Voegele, Catherine, Webb, Penelope M., Whiteman, David C., Sangrajrang, Suleeporn, Hopper, John L., Southey, Melissa C., Andrulis, Irene L., John, Esther M. and Chenevix-Trench, Georgia (2009) Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. American journal of human genetics 85 (4), pp. 427-446.

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Abstract

The susceptibility gene for ataxia telangiectasia, ATM, is also an intermediate-risk breast-cancer-susceptibility gene. However, the spectrum and frequency distribution of ATM mutations that confer increased risk of breast cancer have been controversial. To assess the contribution of rare variants in this gene to risk of breast cancer, we pooled data from seven published ATM case-control ...

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Item type:Article
Date:October 2009
Institutions:Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Funktionelle Genomik (Prof. Oefner)
Identification Number:
ValueType
19781682PubMed ID
10.1016/j.ajhg.2009.08.018DOI
Classification:
NotationType
AdultMESH
Age FactorsMESH
Alternative SplicingMESH
AnimalsMESH
Ataxia Telangiectasia Mutated ProteinsMESH
Breast Neoplasms/geneticsMESH
Case-Control StudiesMESH
Cell Cycle Proteins/geneticsMESH
ChickensMESH
DNA Mutational AnalysisMESH
DNA-Binding Proteins/geneticsMESH
Evolution, MolecularMESH
FemaleMESH
HumansMESH
Middle AgedMESH
MutationMESH
Mutation, MissenseMESH
Protein-Serine-Threonine Kinases/geneticsMESH
RiskMESH
Tumor Suppressor Proteins/geneticsMESH
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:30661
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