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Titel:

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

Dokumenttyp:
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
Autor(en):
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...     »
Zeitschriftentitel:
Cancer Epidemiol Biomarkers Prev
Jahr:
2010
Band / Volume:
19
Heft / Issue:
9
Seitenangaben Beitrag:
2143-51
Sprache:
eng
Volltext / DOI:
doi:10.1158/1055-9965.EPI-10-0374
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/20826828
Print-ISSN:
1055-9965
TUM Einrichtung:
Frauenklinik und Poliklinik
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