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Genome-wide association study of colorectal cancer identifies six new susceptibility loci

Fredrick R. Schumacher, +103 more
- 07 Jul 2015 - 
- Vol. 6, Iss: 1, pp 7138-7138
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TLDR
Six new susceptibility loci reaching a genome-wide threshold of P<5.0E-08 are described, providing additional insight into the underlying biological mechanisms of colorectal cancer and demonstrating the scientific value of large consortia-based genetic epidemiology studies.
Abstract: 
Genetic susceptibility to colorectal cancer is caused by rare pathogenic mutations and common genetic variants that contribute to familial risk. Here we report the results of a two-stage association study with 18,299 cases of colorectal cancer and 19,656 controls, with follow-up of the most statistically significant genetic loci in 4,725 cases and 9,969 controls from two Asian consortia. We describe six new susceptibility loci reaching a genome-wide threshold of P<5.0E-08. These findings provide additional insight into the underlying biological mechanisms of colorectal cancer and demonstrate the scientific value of large consortia-based genetic epidemiology studies.

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A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33

Gloria M. Petersen, +82 more
TL;DR: This study has identified common susceptibility loci for pancreatic cancer that warrant follow-up studies and identified eight SNPs that map to three loci on chromosomes 13q22.1, 1q32.1 and 5p15.1 that are associated with multiple cancers.
Journal ArticleDOI

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases A Mendelian Randomization Study

Philip C Haycock, +197 more
- 01 May 2017 - 
TL;DR: It is likely that longer telomeres increase risk for several cancers but reduce risk for some non-neoplastic diseases, including cardiovascular diseases, as well as single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population.
Journal ArticleDOI

Discovery of common and rare genetic risk variants for colorectal cancer

Jeroen R. Huyghe, +224 more
- 01 Jan 2019 - 
TL;DR: Genome-wide association analyses based on whole-genome sequencing and imputation identify 40 new risk variants for colorectal cancer, including a strongly protective low-frequency variant at CHD1 and loci implicating signaling and immune function in disease etiology.
Journal ArticleDOI

Genome-wide association studies of cancer: current insights and future perspectives

Amit Sud, +2 more
- 13 Oct 2017 - 
TL;DR: Genome-wide association studies have shown that common genetic variation contributes substantially to the heritable risk of many common cancers, and deciphering the functional and biological basis of associations is challenging and is in part a barrier to fully unlocking the potential of GWAS.
Journal ArticleDOI

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

Jihyoun Jeon, +41 more
- 01 Jun 2018 - 
TL;DR: The models determined risk of CRC and starting ages for screening with greater accuracy than the family history only model, which is based on the current screening guideline, might serve as a first step toward developing individualized CRC prevention strategies.
References
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Journal ArticleDOI

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Rebecca L. Siegel, +3 more
- 01 Jan 2014 - 
TL;DR: The magnitude of the decline in cancer death rates from 1991 to 2010 varies substantially by age, race, and sex, ranging from no decline among white women aged 80 years and older to a 55% decline among black men aged 40 years to 49 years.
Journal ArticleDOI

An integrated map of genetic variation from 1,092 human genomes

Gonçalo R. Abecasis, +9 more
- 01 Nov 2012 - 
TL;DR: It is shown that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites.
Journal ArticleDOI

A Map of Human Genome Variation From Population-Scale Sequencing

Gonçalo R. Abecasis, +8 more
- 28 Oct 2010 - 
TL;DR: The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype as mentioned in this paper, and the results of the pilot phase of the project, designed to develop and compare different strategies for genomewide sequencing with high-throughput platforms.
Journal ArticleDOI

Comprehensive molecular characterization of human colon and rectal cancer

Donna M. Muzny, +320 more
- 19 Jul 2012 - 
TL;DR: Integrative analyses suggest new markers for aggressive colorectal carcinoma and an important role for MYC-directed transcriptional activation and repression.
Journal ArticleDOI

Table S2: Trans-factors and trinucleotide repeat instability Trans-factor

Arturo López Castel, +2 more
- 01 Jan 2010 - 
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