Article
Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology - 1 Sept 2010
Fletcher Olivia, Johnson Nichola, dos Santos Silva Isabel, Orr Nick, Ashworth Alan, Nevanlinna Heli, Heikkinen Tuomas, Aittomäki Kristiina, Blomqvist Carl, Burwinkel Barbara, Bartram Claus R, Meindl Alfons, Schmutzler Rita K, Cox Angela, Brock Ian, Elliott Graeme, Reed Malcolm W R, Southey Melissa C, Smith Letitia, Spurdle Amanda B, Hopper John L, Couch Fergus J, Olson Janet E, Wang Xianshu, Fredericksen Zachary, Schürmann Peter, Waltes Regina, Bremer Michael, Dörk Thilo, Devilee Peter, van Asperen Christie J, Tollenaar Rob A E M, Seynaeve Caroline, Hall Per, Czene Kamila, Humphreys Keith, Liu Jianjun, Ahmed Shahana, Dunning Alison M, Maranian Melanie, Pharoah Paul D P, Chenevix-Trench Georgia, Beesley Jonathan, Bogdanova Natalia V, Antonenkova Natalia N, Zalutsky Iosif V, Anton-Culver Hoda, Ziogas Argyrios, Brauch Hiltrud, Ko Yon-Dschun, Hamann Ute, Fasching Peter A, Strick Reiner, Ekici Arif B, Beckmann Matthias W, Giles Graham G, Severi Gianluca, Baglietto Laura, English Dallas R, Milne Roger L, Benítez Javier, Arias José Ignacio, Pita Guillermo, Nordestgaard Børge G, Bojesen Stig E, Flyger Henrik, Kang Daehee, Yoo Keun-Young, Noh Dong Young, Mannermaa Arto, Kataja Vesa, Kosma Veli-Matti, García-Closas Montserrat, Chanock Stephen, Lissowska Jolanta, Brinton Louise A, Chang-Claude Jenny, Wang-Gohrke Shan, Broeks Annegien, Schmidt Marjanka K, van Leeuwen Flora E, Van't Veer Laura J, Margolin Sara, Lindblom Annika, Humphreys Manjeet K, Morrison Jonathan, Platte Radka, Easton Douglas F, Peto Julian
Abstract excerpt
BACKGROUND: Truncating mutations in ATM have been shown to increase the risk of breast cancer but the effect of missense variants remains contentious. METHODS: 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...
