New insights into the aetiology of colorectal cancer from genome-wide association studies
作者： Albert Tenesa , Malcolm G. Dunlop
DOI: 10.1038/NRG2574
关键词: Cancer 、 Genetic variation 、 Regulation of gene expression 、 Genetics 、 Genome-wide association study 、 Transforming growth factor beta 、 Gene 、 Colorectal cancer 、 Genetic association 、 Biology
摘要: Genome-wide association studies have recently identified ten common genetic variants associated with colorectal cancer susceptibility, several suggesting the involvement of components transforming growth factor beta (TGFbeta) superfamily signalling pathway. To date, no causal sequence been identified, and risk seems to be mediated through effects on gene regulation. Several markers are located close poorly characterized genes or in deserts, raising challenges for elucidating mechanisms susceptibility. Disease-associated variation offers potential refine stratification within populations enable more targeted disease prevention strategies.
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Kenneth W. Kinzler, Lois L. Myeroff, James K. V. Willson, Sanford D. Markowitz, Ramon Parsons, Bo Liu, Bert Vogelstein, Microsatellite instability and mutations of the transforming growth factor β type II receptor gene in colorectal cancer Cancer Research. ,vol. 55, pp. 5548- 5550 ,(1995)
Parry Guilford, Justin Hopkins, James Harraway, Maybelle McLeod, Ngahiraka McLeod, Pauline Harawira, Huriana Taite, Robin Scoular, Andrew Miller, Anthony E. Reeve, E-cadherin germline mutations in familial gastric cancer Nature. ,vol. 392, pp. 402- 405 ,(1998) , 10.1038/32918
P. Kleihues, B. W. Stewart, World Cancer Report ,(2003)
Ian PM Tomlinson, Emily Webb, Luis Carvajal-Carmona, Peter Broderick, Kimberley Howarth, Alan M Pittman, Sarah Spain, Steven Lubbe, Axel Walther, Kate Sullivan, Emma Jaeger, Sarah Fielding, Andrew Rowan, Jayaram Vijayakrishnan, Enric Domingo, Ian Chandler, Zoe Kemp, Mobshra Qureshi, Susan M Farrington, Albert Tenesa, James GD Prendergast, Rebecca A Barnetson, Steven Penegar, Ella Barclay, Wendy Wood, Lynn Martin, Maggie Gorman, Huw Thomas, Julian Peto, D Timothy Bishop, Richard Gray, Eamonn R Maher, Anneke Lucassen, David Kerr, D Gareth R Evans, CORGI Consortium, Clemens Schafmayer, Stephan Buch, Henry Völzke, Jochen Hampe, Stefan Schreiber, Ulrich John, Thibaud Koessler, Paul Pharoah, Tom van Wezel, Hans Morreau, Juul T Wijnen, John L Hopper, Melissa C Southey, Graham G Giles, Gianluca Severi, Sergi Castellví-Bel, Clara Ruiz-Ponte, Angel Carracedo, Antoni Castells, EPICOLON Consortium, Asta Försti, Kari Hemminki, Pavel Vodicka, Alessio Naccarati, Lara Lipton, Judy WC Ho, KK Cheng, Pak C Sham, J Luk, Jose AG Agúndez, Jose M Ladero, Miguel de la Hoya, Trinidad Caldés, Iina Niittymäki, Sari Tuupanen, Auli Karhu, Lauri Aaltonen, Jean-Baptiste Cazier, Harry Campbell, Malcolm G Dunlop, Richard S Houlston, None, A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3 Nature Genetics. ,vol. 40, pp. 623- 630 ,(2008) , 10.1038/NG.111
Liudmila L. Kodach, Eliza Wiercinska, Noel F.C.C. de Miranda, Sylvia A. Bleuming, Alex R. Musler, Maikel P. Peppelenbosch, Evelien Dekker, Gijs R. van den Brink, Carel J.M. van Noesel, Hans Morreau, Daniel W. Hommes, Peter ten Dijke, G. Johan A. Offerhaus, James C.H. Hardwick, The Bone Morphogenetic Protein Pathway Is Inactivated in the Majority of Sporadic Colorectal Cancers Gastroenterology. ,vol. 134, pp. 1332- 1341.e3 ,(2008) , 10.1053/J.GASTRO.2008.02.059
Ian Tomlinson, Emily Webb, Luis Carvajal-Carmona, Peter Broderick, Zoe Kemp, Sarah Spain, Steven Penegar, Ian Chandler, Maggie Gorman, Wendy Wood, Ella Barclay, Steven Lubbe, Lynn Martin, Gabrielle Sellick, Emma Jaeger, Richard Hubner, Ruth Wild, Andrew Rowan, Sarah Fielding, Kimberley Howarth, CORGI Consortium, Andrew Silver, Wendy Atkin, Kenneth Muir, Richard Logan, David Kerr, Elaine Johnstone, Oliver Sieber, Richard Gray, Huw Thomas, Julian Peto, Jean-Baptiste Cazier, Richard Houlston, None, A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nature Genetics. ,vol. 39, pp. 984- 988 ,(2007) , 10.1038/NG2085
Leonid Kruglyak, The road to genome-wide association studies Nature Reviews Genetics. ,vol. 9, pp. 314- 318 ,(2008) , 10.1038/NRG2316
B. Towler, L. Irwig, P. Glasziou, J. Kewenter, D. Weller, C. Silagy, A systematic review of the effects of screening for colorectal cancer using the faecal occult blood test, hemoccult. BMJ. ,vol. 317, pp. 559- 565 ,(1998) , 10.1136/BMJ.317.7158.559
Jonathan M. Yingling, Kerry L. Blanchard, J. Scott Sawyer, Development of TGF-β signalling inhibitors for cancer therapy Nature Reviews Drug Discovery. ,vol. 3, pp. 1011- 1022 ,(2004) , 10.1038/NRD1580
K J Savinainen, M J Linja, O R Saramäki, T L J Tammela, G T G Chang, A O Brinkmann, T Visakorpi, Expression and copy number analysis of TRPS1, EIF3S3 and MYC genes in breast and prostate cancer. British Journal of Cancer. ,vol. 90, pp. 1041- 1046 ,(2004) , 10.1038/SJ.BJC.6601648