Abstract
Abstract Colorectal cancer (CRC) is one of the most frequent cancers and leading cause of cancer mortality in the developed world. Twin study has attributed about 35% of the etiology of sporadic CRC to genes. Hitherto, more than 20 single nucleotide polymorphism (SNP) loci have been associated with CRC risk. The role of structural variant in CRC, however, remains unclear. We performed genome-wide association study (GWAS) on 2,000 ethnicity-, age-, and gender-matched Singapore Chinese CRC patients (aged 50 or more and with no dominant family history of CRC) and healthy controls. Genome-wide genotyping was performed using Affymetrix SNP 6 platform. Copy number polymorphism (CNP) was interrogated in 1830 samples that passed quality assurance tests using a multivariate segmentation algorithm. A 150 kb region at chromosome 8p11 was identified to be significantly associated (-log10 p-value = 29) with sporadic CRC risk. This CNP was preferentially amplified in the cases compared to the controls. The amplification was not gender-specific suggesting that it is not involved in gender-limiting pathway. It is now being replicated in an independent panel using digital polymerase chain reaction (dPCR) and multiplex endogenous reference technique. In silico analysis of a 1.5 Mb region encompassing the CNP reveals a candidate gene 300kb 5′ of the CNP previously implicated in cancer progression. The expression of this gene in cases with copy number and metastasis status is being interrogated. Citation Format: Peh Yean Cheah, Lai Fun Thean, Yik Ying Teo, Woon-Puay Koh, Jian-Min Yuan, Min Hoe Chew, Choong Leong Tang. Genome-wide copy number analysis identified a copy number polymorphism at chromosome 8p11 associated with sporadic colorectal cancer risk in Singapore Chinese. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 4587. doi:10.1158/1538-7445.AM2015-4587
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