scholarly journals Scores polygéniques et risque de cancer

2020 ◽  
Vol 36 (5) ◽  
pp. 535-537
Author(s):  
Bertrand Jordan
Keyword(s):  
Risk Assessment ◽  
Risk Score ◽  
Clinical Utility ◽  
Polygenic Risk Score ◽  
Cancer Type ◽  
Polygenic Risk

Risk assessment for a cancer type with moderate heritability can be accurately performed using a relatively small number of SNPs detected by GWAS analyses to calculate a polygenic risk score (PRS) that has definite clinical utility.

scholarly journals Gastric Cancer Risk Prediction Using an Epidemiological Risk Assessment Model and Polygenic Risk Score

Cancers ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 876
Author(s):  
Boyoung Park ◽  
Sarah Yang ◽  
Jeonghee Lee ◽  
Il Ju Choi ◽  
Young-Il Kim ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Risk Assessment ◽  
Risk Score ◽  
Assessment Model ◽  
Polygenic Risk Score ◽  
Genome Wide Association Studies ◽  
Risk Assessment Model ◽  
Infection Status ◽  
Polygenic Risk ◽  
H Pylori

We investigated the performance of a gastric cancer (GC) risk assessment model in combination with single-nucleotide polymorphisms (SNPs) as a polygenic risk score (PRS) in consideration of Helicobacter pylori (H. pylori) infection status. Six SNPs identified from genome-wide association studies and a marginal association with GC in the study population were included in the PRS. Discrimination of the GC risk assessment model, PRS, and the combination of the two (PRS-GCS) were examined regarding incremental risk and the area under the receiver operating characteristic curve (AUC), with grouping according to H. pylori infection status. The GC risk assessment model score showed an association with GC, irrespective of H. pylori infection. Conversely, the PRS exhibited an association only for those with H. pylori infection. The PRS did not discriminate GC in those without H. pylori infection, whereas the GC risk assessment model showed a modest discrimination. Among individuals with H. pylori infection, discrimination by the GC risk assessment model and the PRS were comparable, with the PRS-GCS combination resulting in an increase in the AUC of 3%. In addition, the PRS-GCS classified more patients and fewer controls at the highest score quintile in those with H. pylori infection. Overall, the PRS-GCS improved the identification of a GC-susceptible population of people with H. pylori infection. In those without H. pylori infection, the GC risk assessment model was better at identifying the high-risk group.

Broad‐ and narrow‐sense validity performance of three polygenic risk score methods for prostate cancer risk assessment

The Prostate ◽  
2019 ◽  
Vol 80 (1) ◽  
pp. 83-87 ◽  
Author(s):  
Hongjie Yu ◽  
Zhuqing Shi ◽  
Xiaoling Lin ◽  
Quanwa Bao ◽  
Haifei Jia ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Risk Assessment ◽  
Cancer Risk ◽  
Risk Score ◽  
Prostate Cancer Risk ◽  
Cancer Risk Assessment ◽  
Polygenic Risk Score ◽  
Narrow Sense ◽  
Polygenic Risk

Mo1615 POTENTIAL CLINICAL UTILITY OF SNP-BASED POLYGENIC RISK SCORE FOR DEVELOPING PERSONALIZED COLONOSCOPY SCREENING STRATEGY

2020 ◽  
Vol 158 (6) ◽  
pp. S-917
Author(s):  
Michael J. Northcutt ◽  
Michael K. Zijlstra ◽  
Ayush N. Shah ◽  
Mohammad Beig ◽  
Polina Imas ◽  
...  
Keyword(s):  
Risk Score ◽  
Clinical Utility ◽  
Screening Strategy ◽  
Polygenic Risk Score ◽  
Polygenic Risk ◽  
Colonoscopy Screening ◽  
Potential Clinical Utility

scholarly journals MS29.03 Polygenic Risk Score for Risk Assessment

2018 ◽  
Vol 13 (10) ◽  
pp. S301-S302
Author(s):  
R. Hung ◽  
Y. Brhane ◽  
N. Chatterjie ◽  
D. Christiani ◽  
N. Caporaso ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Risk Score ◽  
Polygenic Risk Score ◽  
Polygenic Risk

scholarly journals Prognostic Value of a Polygenic Risk Score for Coronary Heart Disease in Individuals Aged 70 Years and Older

2021 ◽  
Author(s):  
Johannes T. Neumann ◽  
Moeen Riaz ◽  
Andrew Bakshi ◽  
Galina Polekhina ◽  
Le T.P. Thao ◽  
...  
Keyword(s):  
Risk Score ◽  
Cardiovascular Events ◽  
Prognostic Value ◽  
Clinical Utility ◽  
Polygenic Risk Score ◽  
Older Individuals ◽  
Conventional Model ◽  
Polygenic Risk ◽  
History Of ◽  
Genomic Risk

Background: The use of a polygenic risk score (PRS) to improve risk prediction of coronary heart disease (CHD) events has been demonstrated to have clinical utility in the general adult population. However, the prognostic value of a PRS for CHD has not been examined specifically in older populations of individuals aged ≥70 years, who comprise a distinct high-risk subgroup. The objective of this study was to evaluate the predictive value of a PRS for incident CHD events in a prospective cohort of older individuals without a history of cardiovascular events. Methods: We used data from 12 792 genotyped, healthy older individuals enrolled into the ASPREE trial (Aspirin in Reducing Events in the Elderly), a randomized double-blind placebo-controlled clinical trial investigating the effect of daily 100 mg aspirin on disability-free survival. Participants had no previous history of diagnosed atherothrombotic cardiovascular events, dementia, or persistent physical disability at enrollment. We calculated a PRS (meta-genomic risk score) consisting of 1.7 million genetic variants. The primary outcome was a composite of incident myocardial infarction or CHD death over 5 years. Results: At baseline, the median population age was 73.9 years, and 54.9% were female. In total, 254 incident CHD events occurred. When the PRS was added to conventional risk factors, it was independently associated with CHD (hazard ratio, 1.24 [95% CI, 1.08–1.42], P =0.002). The area under the curve of the conventional model was 70.53 (95% CI, 67.00–74.06), and after inclusion of the PRS increased to 71.78 (95% CI, 68.32–75.24, P =0.019), demonstrating improved prediction. Reclassification was also improved, as the continuous net reclassification index after adding PRS to the conventional model was 0.25 (95% CI, 0.15–0.28). Conclusion: A PRS for CHD performs well in older people and improves prediction over conventional cardiovascular risk factors. Our study provides evidence that genomic risk prediction for CHD has clinical utility in individuals aged 70 years and older. REGISTRATION: URL: https://www.clinicaltrials.gov ; Unique identifier: NCT01038583

scholarly journals Comprehensive Breast Cancer Risk Assessment for CHEK2 and ATM Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model

2021 ◽  
pp. 1073-1081
Author(s):  
Shannon Gallagher ◽  
Elisha Hughes ◽  
Allison W. Kurian ◽  
Susan M. Domchek ◽  
Judy Garber ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Assessment ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Risk Score ◽  
Pathogenic Variant ◽  
European Ancestry ◽  
Polygenic Risk Score ◽  
Polygenic Risk ◽  
Clinical Records

PURPOSE Breast cancer risks for CHEK2 and ATM pathogenic variant (PV) carriers are modified by an 86-single nucleotide polymorphism polygenic risk score (PRS) and individual clinical factors. Here, we describe comprehensive risk prediction models for women of European ancestry combining PV status, PRS, and individual clinical variables. MATERIALS AND METHODS This study included deidentified clinical records from 358,095 women of European ancestry who received testing with a multigene panel (September 2013 to November 2019). Model development included CHEK2 PV carriers (n = 4,286), ATM PV carriers (n = 2,666), and women negative for other breast cancer risk gene PVs (n = 351,143). Odds ratios (ORs) were calculated using multivariable logistic regression with adjustment for familial cancer history. Risk estimates incorporating PV status, PRS, and Tyrer-Cuzick v7.02 were calculated using a Fixed-Stratified method that accounts for correlations between risk factors. Stratification of PV carriers into risk categories on the basis of remaining lifetime risk (RLR) was assessed in independent cohorts of PV carriers. RESULTS ORs for association of PV status with breast cancer were 2.01 (95% CI, 1.88 to 2.16) and 1.83 (95% CI, 1.68 to 2.00) for CHEK2 and ATM PV carriers, respectively. ORs for PRS per one standard deviation were 1.51 (95% CI, 1.37 to 1.66) and 1.45 (95% CI, 1.30 to 1.64) in CHEK2 and ATM PV carriers, respectively. Using the combined model (PRS plus Tyrer-Cuzick plus PV status), RLR was low (≤ 20%) for 24.2% of CHEK2 PV carriers, medium (20%-50%) for 63.8%, and high (> 50%) for 12.0%. Among ATM PV carriers, RLR was low for 31.5% of patients, medium for 58.5%, and high for 9.7%. CONCLUSION In CHEK2 and ATM PV carriers, risk assessment including PRS, Tyrer-Cuzick, and PV status has the potential for more precise direction of screening and prevention strategies.

Polygenic risk score as clinical utility in psychiatry: a clinical viewpoint

2020 ◽  
Vol 66 (1) ◽  
pp. 53-60
Author(s):  
Masashi Ikeda ◽  
Takeo Saito ◽  
Tetsufumi Kanazawa ◽  
Nakao Iwata
Keyword(s):  
Risk Score ◽  
Clinical Utility ◽  
Polygenic Risk Score ◽  
Polygenic Risk

scholarly journals Public Health Mode Personalized Medicine: Risk Stratification for Breast Cancer Screening

2018 ◽  
Vol 4 (Supplement 2) ◽  
pp. 44s-44s
Author(s):  
M. Wolfson
Keyword(s):  
Public Health ◽  
Breast Cancer ◽  
Risk Assessment ◽  
Family History ◽  
Risk Stratification ◽  
Risk Score ◽  
Joint Distribution ◽  
Genetic Mutations ◽  
Polygenic Risk Score ◽  
Polygenic Risk

Background: Breast cancer (BC) screening, primarily age-based, is a major public health program in many wealthy countries. At the same time, there is a dramatic increase in using genetics to support personalized medicine. These two approaches would seem antithetical. However, they can join powerfully with the possibility of using genetic information as the basis for a major shift from age-based to a risk-based BC screening programs. Aim: To assess the prospective cost-effectiveness of such a shift to risk-based BC screening requires representative population data on the relationships among a woman's age when a risk assessment is done, her family history of cancer in the context of pedigree data, and specific features of her genotype - comprising both the presence of rare genetic mutations like BRCA1/2 and recently derived polygenic risk scores. We use our newly developed Genetic Mixing Model (GMM) to estimate this joint distribution as the initial step in assessing the prospective cost-effectiveness of risk stratified BC screening in Canada. Methods: BOADICEA is a BC risk stratification algorithm already in wide use around the world, and in particular in Ontario, for high risk screening. A new version of BOADICEA incorporating a polygenic risk score has recently (will have) been published. We embedded the new core BOADICEA algorithm into the GMM. GMM thus provides the empirical foundation for assessing risk stratification for a representative population by constructing an estimate of the multivariate joint distribution of family history, presence of rare genetic mutations including BRCA1/2, and a polygenic risk score, derived from genome-wide association studies. Results: Using a polygenic risk score (PRS) would be far more useful for stratifying women according to their risk of breast cancer than the two most commonly used indicators at present: family history and rare genetic mutations. We have assessed a variety of combinations of these genetic indicators, in combination with offering universal risk assessment to women in Canada at various ages, and using different thresholds for categorizing women as being at high risk. The optimal age for risk assessment is in the 35 to 40 range. And the PRS is substantially more useful than family history or rare mutations for stratifying women for screening intensity by their risk of BC. Conclusion: Shifting from the current public health approach of primarily age-based screening for breast cancer, to one based on risk stratification, especially making use of recent advances in assessing polygenic risk, offers major potential benefits.

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