To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome-wide association study data, and tested for association in 34,869 cases and 29,051 controls. Findings were followed up in an additional 23,262 cases and 38,296 controls. We discovered a strongly protective 0.3% frequency variant signal at CHD1. In a combined meta-analysis of 125,478 individuals, we identified 40 new independent signals at P < 5 × 10-8, bringing the number of known independent signals for CRC to ~100. New signals implicate lower-frequency variants, Kruppel-like factors, Hedgehog signaling, Hippo-YAP signaling, long noncoding RNAs and somatic drivers, and support a role for immune function. Heritability analyses suggest that CRC risk is highly polygenic, and larger, more comprehensive studies enabling rare variant analysis will improve understanding of biology underlying this risk and influence personalized screening strategies and drug development.

/pdf/discovery-of-common-and-rare-genetic-risk-variants-for-4gil51lfws.pdf

Discovery of common and rare genetic risk variants for colorectal cancer

Determining Risk of Colorectal Cancer and Starting Age of Screening Based on Lifestyle, Environmental, and Genetic Factors.

Globally, colorectal cancer (CRC) is a substantial public health burden, and it is increasingly affecting populations in Asian countries. The overall prevalence of CRC is reported to be low in Asia when compared with that in Western nations, yet it had the highest number of prevalent cases. This review described the prevalence of CRC in Asia according to the International Agency for Research on Cancer from World Health Organization (WHO) database and summarized its major risk factors. Non-modifiable factors include genetic factors, ethnicity, age, gender, family history and body height; smoking, alcohol drinking, weight, Westernized diet, physical inactivity, chronic diseases and microbiota were involved in environmental factors. These risk factors were separately discussed in this review according to published literature from Asian countries. CRC screening has been playing an important role in reducing its disease burden. Some recommendations on its screening practices have been formulated in guidelines for Asia Pacific countries.

/pdf/prevalence-and-risk-factors-of-colorectal-cancer-in-asia-oyz3h9n6yh.pdf

Prevalence and risk factors of colorectal cancer in Asia

Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has a strong heritable basis. We report a genome-wide association analysis of 34,627 CRC cases and 71,379 controls of European ancestry that identifies SNPs at 31 new CRC risk loci. We also identify eight independent risk SNPs at the new and previously reported European CRC loci, and a further nine CRC SNPs at loci previously only identified in Asian populations. We use in situ promoter capture Hi-C (CHi-C), gene expression, and in silico annotation methods to identify likely target genes of CRC SNPs. Whilst these new SNP associations implicate target genes that are enriched for known CRC pathways such as Wnt and BMP, they also highlight novel pathways with no prior links to colorectal tumourigenesis. These findings provide further insight into CRC susceptibility and enhance the prospects of applying genetic risk scores to personalised screening and prevention.

/pdf/association-analyses-identify-31-new-risk-loci-for-559cwe7j2x.pdf

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

Background: Previous genome-wide association studies (GWAS) have identified 42 loci (P < 5x10(-8)) associated with risk of colorectal cancer (CRC). Expanded consortium efforts facilitating the d ...

/pdf/novel-common-genetic-susceptibility-loci-for-colorectal-428udb2hmw.pdf

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

https://ir.ymlib.yonsei.ac.kr/bitstream/22282913/152831/3/T201605427.pdf

Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk

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Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk