New insights into the aetiology of colorectal cancer from genome-wide association studies

2009 ◽  
Vol 10 (6) ◽  
pp. 353-358 ◽  
Author(s):  
Albert Tenesa ◽  
Malcolm G. Dunlop
Keyword(s):  
Colorectal Cancer ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide

scholarly journals Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies

PLoS ONE ◽  
2018 ◽  
Vol 13 (4) ◽  
pp. e0196245
Author(s):  
Mala Pande ◽  
Aron Joon ◽  
Abenaa M. Brewster ◽  
Wei V. Chen ◽  
John L. Hopper ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Susceptibility ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
Cancer Phenotype

A genome-wide association study of colorectal cancer in Mexican mestizos suggest novel common tumor-risk variants

2020 ◽  
Author(s):  
AUGUSTO Rojas-Martinez ◽  
Valentina Colistro ◽  
Raquel Cruz ◽  
Clara Ruiz ◽  
Inés Quintela ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Latin American ◽  
Genome Wide Association Study ◽  
Association Studies ◽  
Statistical Significance ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Autosomal Snps ◽  
Genome Wide ◽  
A Genome

Abstract Background: Genome-wide association studies (GWAS) for colorectal cancer (CRC) have detected high-risk genetic variants associated with CRC in several ethnic groups, but Latin American communities are still underrepresented. The aim was to identify variants related to CRC in an admixed Latin American population. Methods: The study was performed in 831 cases and 881 controls from Mexico, who were genotyped for 1,006,703 autosomal SNPs. Logistic regression was carried out including covariants, such as sex, age and genetic ancestry. Lastly, we performed a sequence-kernel association test (SKAT) to consider the joint effect of several SNPs lying in genes.Results: Eight chromosomal regions reached genome-wide significance level ( p < 5×10 -8 ): 1p36.22, 1p31.1, 1q42.13, 6p22, 7p14.1, 12q24.32, 16q12.2 and 21q22.2 and 63 variants reached borderline statistical significance ( p < 1×10 − 6 ). SKAT analysis detected 13 loci associated with CRC, none of them previously associated with CRC. Conclusions: We found 8 SNPs and 13 loci associated with CRC. These signals may contribute to enrich the panoply of genes involved with CRC. Further analyses remain to be done to validate the associations in other Latin American populations. This study highlights the importance of conducting GWAS in poorly explored admixed populations.

scholarly journals Colorectal Cancer Risk by Genetic Variants in Populations With and Without Colonoscopy History

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Feng Guo ◽  
Xuechen Chen ◽  
Jenny Chang-Claude ◽  
Michael Hoffmeister ◽  
Hermann Brenner
Keyword(s):  
Colorectal Cancer ◽  
Prediction Models ◽  
Association Studies ◽  
Statistical Tests ◽  
The United States ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Large Genome ◽  
Genome Wide ◽  
History Of

Abstract Background Polygenic risk scores (PRS), which are derived from results of large genome-wide association studies, are increasingly propagated for colorectal cancer (CRC) risk stratification. The majority of studies included in the large genome-wide association studies consortia were conducted in the United States and Germany, where colonoscopy with detection and removal of polyps has been widely practiced over the last decades. We aimed to assess if and to what extent the history of colonoscopy with polypectomy may alter metrics of the predictive ability of PRS for CRC risk. Methods A PRS based on 140 single nucleotide polymorphisms was compared between 4939 CRC patients and 3797 control persons of the Darmkrebs: Chancen der Verhütung durch Screening (DACHS) study, a population-based case-control study conducted in Germany. Risk discrimination was quantified according to the history of colonoscopy and polypectomy by areas under the curves (AUCs) and their 95% confidence intervals (CIs). All statistical tests were 2-sided. Results AUCs and 95% CIs were higher among subjects without previous colonoscopy (AUC = 0.622, 95% CI = 0.606 to 0.639) than among those with previous colonoscopy and polypectomy (AUC = 0.568, 95% CI = 0.536 to 0.601; difference [Δ AUC] = 0.054, P = .004). Such differences were consistently seen in sex-specific groups (women: Δ AUC = 0.073, P = .02; men: Δ AUC = 0.046, P = .048) and age-specific groups (younger than 70 years: Δ AUC = 0.052, P = .07; 70 years or older: Δ AUC = 0.049, P = .045). Conclusions Predictive performance of PRS may be underestimated in populations with widespread use of colonoscopy. Future studies using PRS to develop CRC prediction models should carefully consider colonoscopy history to provide more accurate estimates.

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