Article
Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives.
Human molecular genetics - 1 Nov 2006
Webb Emily L, Rudd Matthew F, Sellick Gabrielle S, El Galta Rachid, Bethke Lara, Wood Wendy, Fletcher Olivia, Penegar Steven, Withey Laura, Qureshi Mobshra, Johnson Nichola, Tomlinson Ian, Gray Richard, Peto Julian, Houlston Richard S
Abstract excerpt
To identify low penetrance susceptibility alleles for colorectal cancer (CRC), we genotyped 1467 non-synonymous SNPs mapping to 871 candidate cancer genes in 2575 cases and 2707 controls. nsSNP selection was biased towards those predicted to be functionally deleterious. One SNP AKAP9 M463I remained significantly associated with CRC risk after stringent adjustment for multiple testing. Further SNPs associated with...
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