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Performance of the Use of Genetic Information to Assess the Risk of Colorectal Cancer in the Basque Population
by
Segues Merino, Nerea Miren
, Barrero, Maialen
, Romero-Garmendia, Irati
, Franke, Andre
, Garcia-Etxebarria, Koldo
, Bujanda, Luis
, Nafria, Beatriz
, D’Amato, Mauro
, Etxart, Ane
in
Blood & organ donations
/ Cancer
/ Cholesterol
/ Colorectal cancer
/ Colorectal carcinoma
/ Consortia
/ Demographic aspects
/ ErbB-2 protein
/ Genetic aspects
/ Genetic diversity
/ Genome-wide association studies
/ Genomes
/ Health risk assessment
/ Hospitalization
/ Inflammatory bowel disease
/ Inflammatory bowel diseases
/ Intestine
/ Methods
/ Microbiota
/ Population
/ Population genetics
/ Population studies
/ Risk factors
2022
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Performance of the Use of Genetic Information to Assess the Risk of Colorectal Cancer in the Basque Population
by
Segues Merino, Nerea Miren
, Barrero, Maialen
, Romero-Garmendia, Irati
, Franke, Andre
, Garcia-Etxebarria, Koldo
, Bujanda, Luis
, Nafria, Beatriz
, D’Amato, Mauro
, Etxart, Ane
in
Blood & organ donations
/ Cancer
/ Cholesterol
/ Colorectal cancer
/ Colorectal carcinoma
/ Consortia
/ Demographic aspects
/ ErbB-2 protein
/ Genetic aspects
/ Genetic diversity
/ Genome-wide association studies
/ Genomes
/ Health risk assessment
/ Hospitalization
/ Inflammatory bowel disease
/ Inflammatory bowel diseases
/ Intestine
/ Methods
/ Microbiota
/ Population
/ Population genetics
/ Population studies
/ Risk factors
2022
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Performance of the Use of Genetic Information to Assess the Risk of Colorectal Cancer in the Basque Population
by
Segues Merino, Nerea Miren
, Barrero, Maialen
, Romero-Garmendia, Irati
, Franke, Andre
, Garcia-Etxebarria, Koldo
, Bujanda, Luis
, Nafria, Beatriz
, D’Amato, Mauro
, Etxart, Ane
in
Blood & organ donations
/ Cancer
/ Cholesterol
/ Colorectal cancer
/ Colorectal carcinoma
/ Consortia
/ Demographic aspects
/ ErbB-2 protein
/ Genetic aspects
/ Genetic diversity
/ Genome-wide association studies
/ Genomes
/ Health risk assessment
/ Hospitalization
/ Inflammatory bowel disease
/ Inflammatory bowel diseases
/ Intestine
/ Methods
/ Microbiota
/ Population
/ Population genetics
/ Population studies
/ Risk factors
2022
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Performance of the Use of Genetic Information to Assess the Risk of Colorectal Cancer in the Basque Population
Journal Article
Performance of the Use of Genetic Information to Assess the Risk of Colorectal Cancer in the Basque Population
2022
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Overview
Although the genetic contribution to colorectal cancer (CRC) has been studied in various populations, studies on the applicability of available genetic information in the Basque population are scarce. In total, 835 CRC cases and 940 controls from the Basque population were genotyped and genome-wide association studies were carried out. Mendelian Randomization analyses were used to discover the effect of modifiable risk factors and microbiota on CRC. In total, 25 polygenic risk score models were evaluated to assess their performance in CRC risk calculation. Moreover, 492 inflammatory bowel disease cases were used to assess whether that genetic information would not confuse both conditions. Five suggestive (p < 5 × 10−6) loci were associated with CRC risk, where genes previously associated with CRC were located (e.g., ABCA12, ATIC or ERBB4). Moreover, the analyses of CRC locations detected additional genes consistent with the biology of CRC. The possible contribution of cholesterol, BMI, Firmicutes and Cyanobacteria to CRC risk was detected by Mendelian Randomization. Finally, although polygenic risk score models showed variable performance, the best model performed correctly regardless of the location and did not misclassify inflammatory bowel disease cases. Our results are consistent with CRC biology and genetic risk models and could be applied to assess CRC risk in the Basque population.
Publisher
MDPI AG,MDPI
Subject
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