Article
The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.
Nature genetics - 1 Aug 2009
Tuupanen Sari, Turunen Mikko, Lehtonen Rainer, Hallikas Outi, Vanharanta Sakari, Kivioja Teemu, Björklund Mikael, Wei Gonghong, Yan Jian, Niittymäki Iina, Mecklin Jukka-Pekka, Järvinen Heikki, Ristimäki Ari, Di-Bernardo Mariachiara, East Phil, Carvajal-Carmona Luis, Houlston Richard S, Tomlinson Ian, Palin Kimmo, Ukkonen Esko, Karhu Auli, Taipale Jussi, Aaltonen Lauri A
Abstract excerpt
Homozygosity for the G allele of rs6983267 at 8q24 increases colorectal cancer (CRC) risk approximately 1.5 fold. We report here that the risk allele G shows copy number increase during CRC development. Our computer algorithm, Enhancer Element Locator (EEL), identified an enhancer element that contains rs6983267. The element drove expression of a reporter gene in a pattern that is consistent with regulation by...
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