Detection, prioritization and analysis of variants of unknown significance in familial breast cancer genes

作者: Eddie A Dovigi

DOI:

关键词:

摘要: II ACKNOWLEDGEMENTS III LIST OF TABLES VI FIGURES VII ABBREVIATIONS VIII CHAPTER

参考文章(98)
Anne-Karina Perl, Petra Wilgenbus, Ulf Dahl, Henrik Semb, Gerhard Christofori, A causal role for E-cadherin in the transition from adenoma to carcinoma Nature. ,vol. 392, pp. 190- 193 ,(1998) , 10.1038/32433
Andrea L. Webber, Robert S. Ingram, John M. Levorse, Shirley M. Tilghman, Location of enhancers is essential for the imprinting of H19 and Igf2 genes Nature. ,vol. 391, pp. 711- 715 ,(1998) , 10.1038/35655
Milena Gasco, Shukri Shami, Tim Crook, The p53 pathway in breast cancer Breast Cancer Research. ,vol. 4, pp. 70- 76 ,(2002) , 10.1186/BCR426
Chengpeng Bi, PeterK Rogan, BIPAD: A web server for modeling bipartite sequence elements BMC Bioinformatics. ,vol. 7, pp. 76- 76 ,(2006) , 10.1186/1471-2105-7-76
B L Robberson, G J Cote, S M Berget, Exon definition may facilitate splice site selection in RNAs with multiple exons. Molecular and Cellular Biology. ,vol. 10, pp. 84- 94 ,(1990) , 10.1128/MCB.10.1.84
Thomas J Albert, Michael N Molla, Donna M Muzny, Lynne Nazareth, David Wheeler, Xingzhi Song, Todd A Richmond, Chris M Middle, Matthew J Rodesch, Charles J Packard, George M Weinstock, Richard A Gibbs, Direct selection of human genomic loci by microarray hybridization. Nature Methods. ,vol. 4, pp. 903- 905 ,(2007) , 10.1038/NMETH1111
Stephanie N. Dorman, Ben C. Shirley, Joan H. M. Knoll, Peter K. Rogan, Expanding probe repertoire and improving reproducibility in human genomic hybridization Nucleic Acids Research. ,vol. 41, ,(2013) , 10.1093/NAR/GKT048
Sara Gutiérrez-Enríquez, Verònica Coderch, Miriam Masas, Judith Balmaña, Orland Diez, The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts Breast Cancer Research and Treatment. ,vol. 117, pp. 461- 465 ,(2009) , 10.1007/S10549-008-0154-7
Pardeep Kaurah, Andrée MacMillan, Niki Boyd, Janine Senz, Alessandro De Luca, Nicki Chun, Gianpaolo Suriano, Sonya Zaor, Lori Van Manen, Cathy Gilpin, Sarah Nikkel, Mary Connolly-Wilson, Scott Weissman, Wendy S. Rubinstein, Courtney Sebold, Robert Greenstein, Jennifer Stroop, Dwight Yim, Benoit Panzini, Wendy McKinnon, Marc Greenblatt, Debrah Wirtzfeld, Daniel Fontaine, Daniel Coit, Sam Yoon, Daniel Chung, Gregory Lauwers, Antonio Pizzuti, Carlos Vaccaro, Maria Ana Redal, Carla Oliveira, Marc Tischkowitz, Sylviane Olschwang, Steven Gallinger, Henry Lynch, Jane Green, James Ford, Paul Pharoah, Bridget Fernandez, David Huntsman, Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer JAMA. ,vol. 297, pp. 2360- 2372 ,(2007) , 10.1001/JAMA.297.21.2360