Five-year absolute risk estimates of colorectal cancer based on CCRAT model and polygenic risk scores: A validation study using the Quebec population-based cohort CARTaGENE
The objective was to evaluate the predictive performance of the Colorectal Cancer Risk Assessment Tool (CCRAT) and three polygenic risk scores (Hsu et al., 2015; Law et al., 2019, Archambault et al., 2020) to predict the occurrence of colorectal cancer at five years in a Quebec population-based coho...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-02-01
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| Series: | Preventive Medicine Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2211335521003697 |
| _version_ | 1818330319216967680 |
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| author | Rodolphe Jantzen Yves Payette Thibault de Malliard Catherine Labbé Nolwenn Noisel Philippe Broët |
| author_facet | Rodolphe Jantzen Yves Payette Thibault de Malliard Catherine Labbé Nolwenn Noisel Philippe Broët |
| author_sort | Rodolphe Jantzen |
| collection | DOAJ |
| description | The objective was to evaluate the predictive performance of the Colorectal Cancer Risk Assessment Tool (CCRAT) and three polygenic risk scores (Hsu et al., 2015; Law et al., 2019, Archambault et al., 2020) to predict the occurrence of colorectal cancer at five years in a Quebec population-based cohort. By using the CARTaGENE cohort, we computed the absolute risk of colorectal cancer with the CCRAT model, the polygenic risk scores (PRS) and combined clinico-genetic models (CCRAT + PRS). We also tailored the CCRAT model by using the marginal age-specific colorectal incidence rates in Canada and the risk score distribution. We reported the calibration and the discrimination. Performances of the PRSs, combined and tailored CCRAT models were compared to the original CCRAT model. The expected-to-observed ratio of the original CCRAT model was 0.54 [0.43–0.68]. The c-index was 74.79 [68.3–80.5]. The tailored CCRAT model improved the expected-to-observed ratio (0.74 [0.59–0.94]) and c-index (76.39 [69.7–82.1]). All PRS improved the expected-to-observed ratios (around 0.83, confidence intervals including one). PRSs’ c-indexes were not significantly different from CCRAT models. Results from the combined models were close to those from the PRS models, Archambault combined model’s c-index being significantly higher than the original and tailored CCRAT models (78.67 [70.8–86.5]; p < 0.001 and p = 0.028, respectively). In this Quebec cohort, CCRAT model has a good discrimination with a poor calibration. While the tailored CCRAT provides some gain in calibration, clinico-genetic models improved both calibration and discrimination. However, better calibrations must be obtained before a practical use among the inhabitants of Quebec province. |
| first_indexed | 2024-12-13T13:02:04Z |
| format | Article |
| id | doaj.art-8ea7f089e4e54033b2d47f2498415f30 |
| institution | Directory Open Access Journal |
| issn | 2211-3355 |
| language | English |
| last_indexed | 2024-12-13T13:02:04Z |
| publishDate | 2022-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Preventive Medicine Reports |
| spelling | doaj.art-8ea7f089e4e54033b2d47f2498415f302022-12-21T23:44:59ZengElsevierPreventive Medicine Reports2211-33552022-02-0125101678Five-year absolute risk estimates of colorectal cancer based on CCRAT model and polygenic risk scores: A validation study using the Quebec population-based cohort CARTaGENERodolphe Jantzen0Yves Payette1Thibault de Malliard2Catherine Labbé3Nolwenn Noisel4Philippe Broët5CARTaGENE, Research Center, CHU Sainte-Justine, Montreal, Quebec, Canada; Université de Montréal, Montréal, Québec, Canada; Corresponding author at: 3175 Chemin de la Côte-Sainte-Catherine, Montréal, QC H3T 1C5, Canada.CARTaGENE, Research Center, CHU Sainte-Justine, Montreal, Quebec, CanadaCARTaGENE, Research Center, CHU Sainte-Justine, Montreal, Quebec, CanadaCARTaGENE, Research Center, CHU Sainte-Justine, Montreal, Quebec, CanadaCARTaGENE, Research Center, CHU Sainte-Justine, Montreal, Quebec, Canada; Université de Montréal, Montréal, Québec, CanadaCARTaGENE, Research Center, CHU Sainte-Justine, Montreal, Quebec, Canada; Université de Montréal, Montréal, Québec, Canada; University Paris-Saclay, CESP, INSERM, Villejuif, France; Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpitaux Universitaires Paris-Sud, Hôpital Paul Brousse, 12 Avenue Paul Vaillant Couturier, 94807 Villejuif, FranceThe objective was to evaluate the predictive performance of the Colorectal Cancer Risk Assessment Tool (CCRAT) and three polygenic risk scores (Hsu et al., 2015; Law et al., 2019, Archambault et al., 2020) to predict the occurrence of colorectal cancer at five years in a Quebec population-based cohort. By using the CARTaGENE cohort, we computed the absolute risk of colorectal cancer with the CCRAT model, the polygenic risk scores (PRS) and combined clinico-genetic models (CCRAT + PRS). We also tailored the CCRAT model by using the marginal age-specific colorectal incidence rates in Canada and the risk score distribution. We reported the calibration and the discrimination. Performances of the PRSs, combined and tailored CCRAT models were compared to the original CCRAT model. The expected-to-observed ratio of the original CCRAT model was 0.54 [0.43–0.68]. The c-index was 74.79 [68.3–80.5]. The tailored CCRAT model improved the expected-to-observed ratio (0.74 [0.59–0.94]) and c-index (76.39 [69.7–82.1]). All PRS improved the expected-to-observed ratios (around 0.83, confidence intervals including one). PRSs’ c-indexes were not significantly different from CCRAT models. Results from the combined models were close to those from the PRS models, Archambault combined model’s c-index being significantly higher than the original and tailored CCRAT models (78.67 [70.8–86.5]; p < 0.001 and p = 0.028, respectively). In this Quebec cohort, CCRAT model has a good discrimination with a poor calibration. While the tailored CCRAT provides some gain in calibration, clinico-genetic models improved both calibration and discrimination. However, better calibrations must be obtained before a practical use among the inhabitants of Quebec province.http://www.sciencedirect.com/science/article/pii/S2211335521003697Polygenic risk score (PRS)CCRATModel calibrationModel discriminationAccuracyColorectal cancer occurrence |
| spellingShingle | Rodolphe Jantzen Yves Payette Thibault de Malliard Catherine Labbé Nolwenn Noisel Philippe Broët Five-year absolute risk estimates of colorectal cancer based on CCRAT model and polygenic risk scores: A validation study using the Quebec population-based cohort CARTaGENE Preventive Medicine Reports Polygenic risk score (PRS) CCRAT Model calibration Model discrimination Accuracy Colorectal cancer occurrence |
| title | Five-year absolute risk estimates of colorectal cancer based on CCRAT model and polygenic risk scores: A validation study using the Quebec population-based cohort CARTaGENE |
| title_full | Five-year absolute risk estimates of colorectal cancer based on CCRAT model and polygenic risk scores: A validation study using the Quebec population-based cohort CARTaGENE |
| title_fullStr | Five-year absolute risk estimates of colorectal cancer based on CCRAT model and polygenic risk scores: A validation study using the Quebec population-based cohort CARTaGENE |
| title_full_unstemmed | Five-year absolute risk estimates of colorectal cancer based on CCRAT model and polygenic risk scores: A validation study using the Quebec population-based cohort CARTaGENE |
| title_short | Five-year absolute risk estimates of colorectal cancer based on CCRAT model and polygenic risk scores: A validation study using the Quebec population-based cohort CARTaGENE |
| title_sort | five year absolute risk estimates of colorectal cancer based on ccrat model and polygenic risk scores a validation study using the quebec population based cohort cartagene |
| topic | Polygenic risk score (PRS) CCRAT Model calibration Model discrimination Accuracy Colorectal cancer occurrence |
| url | http://www.sciencedirect.com/science/article/pii/S2211335521003697 |
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