| Publication Information (EuropePMC) | |
| Title | Variation of Positive Predictive Values of Fecal Immunochemical Tests by Polygenic Risk Score in a Large Screening Cohort. |
| PubMed ID | 35060941(Europe PMC) |
| doi | 10.14309/ctg.0000000000000458 |
| Publication Date | Jan. 19, 2022 |
| Journal | Clin Transl Gastroenterol |
| Author(s) | Niedermaier T, Balavarca Y, Gies A, Weigl K, Guo F, Alwers E, Hoffmeister M, Brenner H. |
| Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
|---|---|---|---|---|---|---|
| PGS002265 (PRS140_CRC) |
PGP000294 | Thomas M et al. Am J Hum Genet (2020) |
Colorectal cancer | colorectal cancer | 140 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002265/ScoringFiles/PGS002265.txt.gz |
|
PGS Performance Metric ID (PPM) |
Evaluated Score |
PGS Sample Set ID (PSS) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
Classification Metrics | Other Metrics | Covariates Included in the Model |
PGS Performance: Other Relevant Information |
|---|---|---|---|---|---|---|---|---|---|
| PPM020902 | PGS002265 (PRS140_CRC) |
PSS011444| Multi-ancestry (including European)| 4,035 individuals |
PGP000601 | Niedermaier T et al. Clin Transl Gastroenterol (2022) |Ext. |
Reported Trait: Advanced neoplasia (colorectal cancer or advanced adenoma) | — | — | Positive predictive value (PPV, highest PRS tertile): 39.0 [36.0, 42.0] | — | Intermediate (90% specificity) FIT cutoff. |
| PPM020901 | PGS002265 (PRS140_CRC) |
PSS011445| Multi-ancestry (including European)| 1,271 individuals |
PGP000601 | Niedermaier T et al. Clin Transl Gastroenterol (2022) |Ext. |
Reported Trait: Advanced neoplasia (colorectal cancer or advanced adenoma) | — | — | Positive predictive value (PPV, highest PRS tertile): 37.0 [31.0, 43.0] | — | Intermediate (90% specificity) FIT cutoff. |
|
PGS Sample Set ID (PSS) |
Phenotype Definitions and Methods | Participant Follow-up Time | Sample Numbers | Age of Study Participants | Sample Ancestry | Additional Ancestry Description | Cohort(s) | Additional Sample/Cohort Information |
|---|---|---|---|---|---|---|---|---|
| PSS011444 | Participants were classified according to the most advanced finding at colonoscopy (CRC, AA, non-advanced adenoma, other or none of above). Fecal hemoglobin concentrations were measured using Ridascreen Haemoglobin which is based on an enzyme immunoassay (participants recruited until December 2008), and FOB Gold which is based on a latex agglutination assay (participants recruited from December 2008 on). In both groups of participants, fully automated FIT analyses were conducted, blinded with respect to colonoscopy results, using Tecan Freedom Evolyzer (Ridascreen Haemoglobin) and Abbott Architect c8000 (FOB Gold), respectively. | — | [ ,
51.4 % Male samples |
Mean = 61.8 years | European, Not reported | — | BLITZ | — |
| PSS011445 | Participants were classified according to the most advanced finding at colonoscopy (CRC, AA, non-advanced adenoma, other or none of above). Fecal hemoglobin concentrations were measured using Ridascreen Haemoglobin which is based on an enzyme immunoassay (participants recruited until December 2008), and FOB Gold which is based on a latex agglutination assay (participants recruited from December 2008 on). In both groups of participants, fully automated FIT analyses were conducted, blinded with respect to colonoscopy results, using Tecan Freedom Evolyzer (Ridascreen Haemoglobin) and Abbott Architect c8000 (FOB Gold), respectively. | — | [ ,
53.5 % Male samples |
Mean = 63.1 years | European, Not reported | — | BLITZ | — |