The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancersreview
Аннотация: Abstract Background: Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding from multiple sources, has allowed the development of an inexpensive genotyping microarray, the OncoArray. The array includes a genome-wide backbone, comprising 230,000 SNPs tagging most common genetic variants, together with dense mapping of known susceptibility regions, rare variants from sequencing experiments, pharmacogenetic markers, and cancer-related traits. Methods: The OncoArray can be genotyped using a novel technology developed by Illumina to facilitate efficient genotyping. The consortium developed standard approaches for selecting SNPs for study, for quality control of markers, and for ancestry analysis. The array was genotyped at selected sites and with prespecified replicate samples to permit evaluation of genotyping accuracy among centers and by ethnic background. Results: The OncoArray consortium genotyped 447,705 samples. A total of 494,763 SNPs passed quality control steps with a sample success rate of 97% of the samples. Participating sites performed ancestry analysis using a common set of markers and a scoring algorithm based on principal components analysis. Conclusions: Results from these analyses will enable researchers to identify new susceptibility loci, perform fine-mapping of new or known loci associated with either single or multiple cancers, assess the degree of overlap in cancer causation and pleiotropic effects of loci that have been identified for disease-specific risk, and jointly model genetic, environmental, and lifestyle-related exposures. Impact: Ongoing analyses will shed light on etiology and risk assessment for many types of cancer. Cancer Epidemiol Biomarkers Prev; 26(1); 126–35. ©2016 AACR.
Год издания: 2016
Авторы: Christopher I. Amos, Joe Dennis, Zhaoming Wang, Jinyoung Byun, Fredrick R. Schumacher, Simon A. Gayther, Graham Casey, David J. Hunter, Thomas A. Sellers, Stephen B. Gruber, Alison M. Dunning, Kyriaki Michailidou, Laura Fachal, Kimberly F. Doheny, Amanda B. Spurdle, Yafang Li, Xiangjun Xiao, Jane Romm, Elizabeth Pugh, Gerhard A. Coetzee, Dennis J. Hazelett, Stig E. Bojesen, Charlisse Caga-Anan, Christopher A. Haiman, Ahsan Kamal, Craig Luccarini, Daniel C. Tessier, Daniel Vincent, François Bacot, David Van Den Berg, Stefanie A. Nelson, Stephen Demetriades, David E. Goldgar, Fergus J. Couch, Judith L. Forman, Graham G. Giles, David V. Conti, Heike Bickeböller, Angela Risch, Mélanie Waldenberger, Irene Brüske‐Hohlfeld, Belynda Hicks, Hua Ling, Lesley McGuffog, Andrew Lee, Karoline Kuchenbaecker, Penny Soucy, Judith Manz, Julie M. Cunningham, Katja Butterbach, Zsofia Kote‐Jarai, Peter Kraft, Liesel M. FitzGerald, Sara Lindstrӧm, Marcia Adams, James McKay, Catherine M. Phelan, Sara Benlloch, Linda E. Kelemen, Paul Brennan, Marjorie J. Riggan, Tracy A. O’Mara, Hongbing Shen, Yongyong Shi, Deborah J. Thompson, Marc T. Goodman, Sune F. Nielsen, Andrew Berchuck, Sylvie LaBoissière, Stephanie L. Schmit, Tameka Shelford, Christopher K. Edlund, Jack A. Taylor, John K. Field, Sue K. Park, Kenneth Offit, Mads Thomassen, Rita K. Schmutzler, Laura Ottini, Rayjean J. Hung, Jonathan Marchini, Ali Amin Al Olama, Ulrike Peters, Rosalind A. Eeles, Michael F. Seldin, Elizabeth M. Gillanders, Daniela Seminara, Antonis C. Antoniou, Paul D.P. Pharoah, Georgia Chenevix‐Trench, Stephen J. Chanock, Jacques Simard, Douglas F. Easton
Издательство: American Association for Cancer Research
Источник: Cancer Epidemiology Biomarkers & Prevention
Ключевые слова: Genetic Associations and Epidemiology, BRCA gene mutations in cancer, Cancer Genomics and Diagnostics
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University of Southern Denmark Research Portal (University of Southern Denmark) (PDF)
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Открытый доступ: bronze
Том: 26
Выпуск: 1
Страницы: 126–135