[1] Lagerstedt, K., Staaf, J., J?nsson, G., Hansson, E., Lonnroth, C., Kressner, U., et al. (2007) Tumor Genome Wide DNA Alterations Assessed by Array CGH in Patients with Poor and Excellent Survival Following Operation for Colorectal Cancer. Cancer Informatics, 3, 1-15.
[2] Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., et al. (2004) Large-Scale Copy Number Polymorphism in the Human Genome. Science, 305, 525-528.
http://dx.doi.org/10.1126/science.1098918
[3] Eichler, E.E. (2006) Widening the Spectrum of Human Genetic Variation. Nature Genetics, 38, 9-11. http://dx.doi.org/10.1038/ng0106-9
[4] McCarroll, S.A. and Altshuler, D.M. (2007) Copy-Number Variation and Association Studies of Human Disease. Nature Genetics, 39, S37-S42. http://dx.doi.org/10.1038/ng2080
[5] Houlston, R.S., Webb, E., Broderick, P., Pittman, A.M., Di Bernardo, M.C., Lubbe, S., et al. (2008) Meta-Analysis of Genome-Wide Association Data Identifies Four New Susceptibility Loci for Colorectal Cancer. Nature Genetics, 40, 1426-1435. http://dx.doi.org/10.1038/ng.262
[6] Tenesa, A., Farrington, S.M., Prendergast, J.G., Porteous, M.E., Walker, M., Haq, N., et al. (2008) Genome-Wide Association Scan Identifies a Colorectal Cancer Susceptibility Locus on 11q23 and Replicates Risk Loci at 8q24 and 18q21. Nature Genetics, 40, 631-637.
http://dx.doi.org/10.1038/ng.133
[7] Tomlinson, I.P., Webb, E., Carvajal-Carmona, L., Broderick, P., Howarth, K., Pittman, A.M., et al. (2008) A Genome-Wide Association Study Identifies Colorectal Cancer Susceptibility Loci on Chromosomes 10p14 and 8q23.3. Nature Genetics, 40, 623-630. http://dx.doi.org/10.1038/ng.111
[8] de Smith, A.J., Tsalenko, A., Sampas, N., Scheffer, A., Yamada, N.A., Tsang, P., et al. (2007) Array CGH Analysis of Copy Number Variation Identifies 1284 New Genes Variant in Healthy White Males: Implications for Association Studies of Complex Diseases. Human Molecular Genetics, 16, 2783-2794. http://dx.doi.org/10.1093/hmg/ddm208
[9] Hinds, D.A., Stuve, L.L., Nilsen, G.B., Halperin, E., Eskin, E., Ballinger, D.G., et al. (2005) Whole-Genome Patterns of Common DNA Variation in Three Human Populations. Science, 307, 1072-1079. http://dx.doi.org/10.1126/science.1105436
[10] Locke, D.P., Sharp, A.J., McCarroll, S.A., McGrath, S.D., Newman, T.L., Cheng, Z., et al. (2006) Linkage Disequilibrium and Heritability of Copy-Number Polymorphisms within Duplicated Regions of the Human Genome. The American Journal of Human Genetics, 79, 275-290.
http://dx.doi.org/10.1086/505653
[11] Redon, R., Ishikawa, S., Fitch, K.R., Feuk, L., Perry, G.H., Andrews, T.D., et al. (2006) Global Variation in Copy Number in the Human Genome. Nature, 444, 444-454.
http://dx.doi.org/10.1038/nature05329
[12] Tuzun, E., Sharp, A.J., Bailey, J.A., Kaul, R., Morrison, V.A., Pertz, L.M., et al. (2005) Fine-Scale Structural Variation of the Human Genome. Nature Genetics, 37, 727-732.
http://dx.doi.org/10.1038/ng1562
[13] Wong, K.K., deLeeuw, R.J., Dosanjh, N.S., Kimm, L.R., Cheng, Z., Horsman, D.E., et al. (2007) A Comprehensive Analysis of Common Copy-Number Variations in the Human Genome. American Journal of Human Genetics, 80, 91-104. http://dx.doi.org/10.1086/510560
[14] Eichler, E.E., Flint, J., Gibson, G., Kong, A., Leal, S.M., Moore, J.H. and Nadeau, J.H. (2010) Missing Heritability and Strategies for Finding the Underlying Causes of Complex Disease. Nature Reviews Genetics, 11, 446-450. http://dx.doi.org/10.1038/nrg2809
[15] Yang, R., Chen, B., Pfutze, K., Buch, S., Steinke, V., Holinski-Feder, E., et al. (2014) Genome-Wide Analysis Associates Familial Colorectal Cancer with Increases in Copy Number Variations and a Rare Structural Variation at 12p12.3. Carcinogenesis, 35, 315-323.
http://dx.doi.org/10.1093/carcin/bgt344
[16] Cheah, P.Y. (2009) Recent Advances in Colorectal Cancer Genetics and Diagnostics. Critical Reviews in Oncology/ Hematology, 69, 45-55. http://dx.doi.org/10.1016/j.critrevonc.2008.08.001
[17] Easton, D.F. and Eeles, R.A. (2008) Genome-Wide Association Studies in Cancer. Human Molecular Genetics, 17, R109-R115. http://dx.doi.org/10.1093/hmg/ddn287
[18] Korbel, J.O., Urban, A.E., Affourtit, J.P., Godwin, B., Grubert, F., Simons, J.F., et al. (2007) Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome. Science, 318, 420-426. http://dx.doi.org/10.1126/science.1149504
[19] Stranger, B.E., Forrest, M.S., Dunning, M., Ingle, C.E., Beazley, C., Thorne, N., et al. (2007) Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes. Science, 315, 848-853. http://dx.doi.org/10.1126/science.1136678
[20] Nathanson, S.D., Schultz, L., Tilley, B. and Kambouris, A. (1986) Carcinomas of the Colon and Rectum. A Comparison of Staging Classifications. The American Surgeon, 52, 428-433.
[21] Zhang, J., Feuk, L., Duggan, G.E., Khaja, R. and Scherer, S.W. (2006) Development of Bioinformatics Resources for Display and Analysis of Copy Number and Other Structural Variants in the Human Genome. Cytogenetic and Genome Research, 115, 205-214. http://dx.doi.org/10.1159/000095916
[22] Lichtenstein, P., Holm, N.V., Verkasalo, P.K., Iliadou, A., Kaprio, J., Koskenvuo, M., Pukkala, E., Skytthe, A. and Hemminki, K. (2000) Environmental and Heritable Factors in the Causation of Cancer—Analyses of Cohorts of Twins from Sweden, Denmark, and Finland. New England Journal of Medicine, 343, 78-85. http://dx.doi.org/10.1056/NEJM200007133430201
[23] McCarroll, S.A., Kuruvilla, F.G., Korn, J.M., Cawley, S., Nemesh, J., Wysoker, A., et al. (2008) Integrated Detection and Population-Genetic Analysis of SNPs and Copy Number Variation. Nature Genetics, 40, 1166-1174. http://dx.doi.org/10.1038/ng.238
[24] Hung, R.J., McKay, J.D., Gaborieau, V., Boffetta, P., Hashibe, M., Zaridze, D., et al. (2008) A Susceptibility Locus for Lung Cancer Maps to Nicotinic Acetylcholine Receptor Subunit Genes on 15q25. Nature, 452, 633-637. http://dx.doi.org/10.1038/nature06885
[25] Broderick, P., Carvajal-Carmona, L., Pittman, A.M., Webb, E., Howarth, K., Rowan, A., et al. (2007) A Genome-Wide Association Study Shows that Common Alleles of SMAD7 Influence Colorectal Cancer Risk. Nature Genetics, 39, 1315-1317. http://dx.doi.org/10.1038/ng.2007.18
[26] Amos, C.I., Wu, X., Broderick, P., Gorlov, I.P., Gu, J., Eisen, T., et al. (2008) Genome-Wide Association Scan of Tag SNPs Identifies a Susceptibility Locus for Lung Cancer at 15q25.1. Nature Genetics, 40, 616-622. http://dx.doi.org/10.1038/ng.109