0383027 - ÚEM 2013 RIV GB eng J - Článek v odborném periodiku
Aaltonen, L. A. - Brenner, H. - Buch, S. - Campbell, H. - Carracedo, A. - Carvajal-Carmona, L. - Castells, A. - Castellví-Bel, S. - Cheadle, J. P. - Devilee, P. - Dunlop, M. - Echeverry, M. - Gallinger, S. - Galvan, A. - Hampe, J. - Hemminki, K. - Ho, J. W. C. - Hofstra, R. M. W. - Hudson, T. J. - Kirac, I. - Lerch, M. M. - Li, L. - Lindblom, A. - Lipton, L. - Matsuda, K. - Maughan, T. S. - Moreno, V. - Morreau, H. - Naccarati, Alessio - Nakamura, Y. - Peterlongo, P. - Pharoah, P. D. - Sieber, O. - Radice, P. - Ruiz-Ponte, C. - Schafmayer, C. - Schmidt, C. A. - von Schönfels, W. - Schreiber, S. - Scott, R. - Sham, P. - Souček, P. - Tenesa, A. - Tomplinson, P. M. - Velez, A. - Villanueva, C. M. - Vodička, Pavel - Völzke, H. - van Wezel, T. - Wijnen, J.T. - Zanke, B.
COGENT (COlorectal cancer GENeTics) revisited.
Mutagenesis. Roč. 27, č. 2 (2012), s. 143-151. ISSN 0267-8357. E-ISSN 1464-3804
Výzkumný záměr: CEZ:AV0Z50390703
Klíčová slova: identification of low-risk variants * disease causing variants * susceptibility alleles
Kód oboru RIV: EB - Genetika a molekulární biologie
Impakt faktor: 3.500, rok: 2012 ; AIS: 0.965, rok: 2012
DOI: https://doi.org/10.1093/mutage/ger059

Many colorectal cancers (CRCs) develop in genetically susceptible individuals most of whom are not carriers of germ line mismatch repair or APC gene mutations and much of the heritable risk of CRC appears to be attributable to the co-inheritance of multiple low-risk variants. The accumulated experience to date in identifying this class of susceptibility allele has highlighted the need to conduct statistically and methodologically rigorous studies and the need for the multi-centre collaboration. This has been the motivation for establishing the COGENT(COlorectal cancer GENeTics) consortium which now includes over 20 research groups in Europe, Australia, the Americas, China and Japan actively working on CRC genetics. Here, we review the rationale for identifying lowpenetrance variants for CRC and the current and future challenges for COGENT.
Trvalý link: http://hdl.handle.net/11104/0213097