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Title:

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls.

Document type:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Article
Author(s):
Fletcher, O; Johnson, N; Dos Santos Silva, I; Orr, N; Ashworth, A; Nevanlinna, H; Heikkinen, T; Aittomäki, K; Blomqvist, C; Burwinkel, B; Bartram, CR; Meindl, A; Schmutzler, RK; Cox, A; Brock, I; Elliott, G; Reed, MW; Southey, MC; Smith, L; Spurdle, AB; Hopper, JL; Couch, FJ; Olson, JE; Wang, X; Fredericksen, Z; Schürmann, P; Waltes, R; Bremer, M; Dörk, T; Devilee, P; van Asperen, CJ; Tollenaar, RA; Seynaeve, C; Hall, P; Czene, K; Humphreys, K; Liu, J; Ahmed, S; Dunning, AM; Maranian, M; Pharoah...     »
Abstract:
Truncating mutations in ATM have been shown to increase the risk of breast cancer but the effect of missense variants remains contentious.We have genotyped five polymorphic (minor allele frequency, 0.9-2.6%) missense single nucleotide polymorphisms (SNP) in ATM (S49C, S707P, F858L, P1054R, and L1420F) in 26,101 breast cancer cases and 29,842 controls from 23 studies in the Breast Cancer Association Consortium.Combining the data from all five SNPs, the odds ratio (OR) was 1.05 for being a heteroz...     »
Journal title abbreviation:
Cancer Epidemiol Biomarkers Prev
Year:
2010
Journal volume:
19
Journal issue:
9
Pages contribution:
2143-51
Language:
eng
Fulltext / DOI:
doi:10.1158/1055-9965.EPI-10-0374
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/20826828
Print-ISSN:
1055-9965
TUM Institution:
Frauenklinik und Poliklinik
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