Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Jeffrey N. Weitzel, Veronica I. Lagos, Carey A. Cullinane, Patricia J. Gambol, Julie O. Culver, Kathleen R. Blazer, Melanie R. Palomares, Katrina J. Lowstuter, Deborah J. MacDonald, Limited Family Structure and BRCA Gene Mutation Status in Single Cases of Breast Cancer JAMA. ,vol. 297, pp. 2587- 2595 ,(2007) , 10.1001/JAMA.297.23.2587

Susan M Wolf, Brittney N Crock, Brian Van Ness, Frances Lawrenz, Jeffrey P Kahn, Laura M Beskow, Mildred K Cho, Michael F Christman, Robert C Green, Ralph Hall, Judy Illes, Moira Keane, Bartha M Knoppers, Barbara A Koenig, Isaac S Kohane, Bonnie LeRoy, Karen J Maschke, William McGeveran, Pilar Ossorio, Lisa S Parker, Gloria M Petersen, Henry S Richardson, Joan A Scott, Sharon F Terry, Benjamin S Wilfond, Wendy A Wolf, None, Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genetics in Medicine. ,vol. 14, pp. 361- 384 ,(2012) , 10.1038/GIM.2012.23

Francesca Schiavi, Carsten C Boedeker, Birke Bausch, Mariola Peçzkowska, Clara Fuentes Gomez, Thomas Strassburg, Christian Pawlu, Mary Buchta, Maren Salzmann, Michael M Hoffmann, Ansgar Berlis, Ingo Brink, Markus Cybulla, Mihaela Muresan, Martin A Walter, Flavio Forrer, Matti Välimäki, Andrzej Kawecki, Zbigniew Szutkowski, Jörg Schipper, Martin K Walz, Pascal Pigny, Catherine Bauters, Joan E Willet-Brozick, Bora E Baysal, Andrzej Januszewicz, Charis Eng, Giuseppe Opocher, Hartmut PH Neumann, European-American Paraganglioma Study Group, Predictors and Prevalence of Paraganglioma Syndrome Associated With Mutations of the SDHC Gene JAMA. ,vol. 294, pp. 2057- 2063 ,(2005) , 10.1001/JAMA.294.16.2057

Rebecca C Fitzgerald, Richard Hardwick, David Huntsman, Fatima Carneiro, Parry Guilford, Vanessa Blair, Daniel C Chung, Jeff Norton, Krishnadath Ragunath, J Han Van Krieken, Sarah Dwerryhouse, Carlos Caldas, None, Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research Journal of Medical Genetics. ,vol. 47, pp. 436- 444 ,(2010) , 10.1136/JMG.2009.074237

Jamie K. Teer, Eric D. Green, James C. Mullikin, Leslie G. Biesecker, VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics. ,vol. 28, pp. 599- 600 ,(2012) , 10.1093/BIOINFORMATICS/BTR711

Richard M Durbin, Matt E Hurles, Gil A McVean, Richard A Gibbs, Gonçalo R Abecasis, David Altshuler, David Altshuler, Adam Auton, Lisa D Brooks, A Map of Human Genome Variation From Population-Scale Sequencing Nature. ,vol. 467, pp. 1061- 1073 ,(2010) , 10.1038/NATURE09534

, Table S2: Trans-factors and trinucleotide repeat instability Trans-factor Nature Reviews Molecular Cell Biology. ,(2010) , 10.1038/NATURE09534

, Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Annals of Internal Medicine. ,vol. 143, pp. 355- ,(2005) , 10.7326/0003-4819-143-5-200509060-00011

E. N. Anderson, Hudson et al. Journal of California Anthropology, The. ,vol. 4, ,(1977)

J. Melia, C. Moynihan, S. Peock, G. Rennert, F. Schröder, P. Sibley, M. Suri, P. Wilson, Y. J. Bignon, S. Strom, M. Tischkowitz, A. Liljegren, D. Ilencikova, A. Abele, K. Kyriacou, C. van Asperen, L. Kiemeney, D. F. Easton, Rosalind A. Eeles, , Anita V. Mitra, Elizabeth K. Bancroft, Yolanda Barbachano, Elizabeth C. Page, C. S. Foster, C. Jameson, G. Mitchell, G. J. Lindeman, A. Stapleton, G. Suthers, D. G. Evans, D. Cruger, I. Blanco, C. Mercer, J. Kirk, L. Maehle, S. Hodgson, L. Walker, L. Izatt, F. Douglas, K. Tucker, H. Dorkins, V. Clowes, A. Male, A. Donaldson, C. Brewer, R. Doherty, B. Bulman, P. J. Osther, M. Salinas, D. Eccles, K. Axcrona, I. Jobson, B. Newcombe, C. Cybulski, W. S. Rubinstein, S. Buys, S. Townshend, E. Friedman, S. Domchek, T. Ramon y Cajal, A. Spigelman, S. H. Teo, N. Nicolai, N. Aaronson, A. Ardern-Jones, C. Bangma, D. Dearnaley, J. Eyfjord, A. Falconer, H. Grönberg, F. Hamdy, O. Johannsson, V. Khoo, Z. Kote-Jarai, H. Lilja, J. Lubinski, Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study BJU International. ,vol. 107, pp. 28- 39 ,(2011) , 10.1111/J.1464-410X.2010.09648.X