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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• Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Funktionelle Genomik (Prof. Oefner)

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Details

Item type	Article
Journal or Publication Title	American journal of human genetics
Publisher:	CELL PRESS
Place of Publication:	CAMBRIDGE
Volume:	85
Number of Issue or Book Chapter:	4
Page Range:	pp. 427-446
Date	October 2009
Institutions	Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Funktionelle Genomik (Prof. Oefner)
Identification Number	Value Type 19781682 PubMed ID 10.1016/j.ajhg.2009.08.018 DOI
Classification	Notation Type Adult MESH Age Factors MESH Alternative Splicing MESH Animals MESH Ataxia Telangiectasia Mutated Proteins MESH Breast Neoplasms/genetics MESH Case-Control Studies MESH Cell Cycle Proteins/genetics MESH Chickens MESH DNA Mutational Analysis MESH DNA-Binding Proteins/genetics MESH Evolution, Molecular MESH Female MESH Humans MESH Middle Aged MESH Mutation MESH Mutation, Missense MESH Protein-Serine-Threonine Kinases/genetics MESH Risk MESH Tumor Suppressor Proteins/genetics MESH
Keywords	ATAXIA-TELANGIECTASIA GENE; RESOLUTION MELTING ANALYSIS; AFFECT PROTEIN FUNCTION; EARLY-ONSET; ALLELIC VARIANTS; FAMILIAL BREAST; TRUNCATING MUTATIONS; DNA-DAMAGE; SUSCEPTIBILITY ALLELES; GERMLINE MUTATIONS;
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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