Trait: colorectal carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_1001951
Description A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. [NCIT: C2955]
Trait categories
Cancer
Digestive system disorder
Synonyms 18 synonyms
  • CRC
  • cancer of large bowel
  • cancer of large intestine
  • cancer of the large bowel
  • cancer of the large intestine
  • carcinoma of colorectum
  • carcinoma of large bowel
  • carcinoma of large intestine
  • carcinoma of the large bowel
  • carcinoma of the large intestine
  • colorectal (colon or rectal) cancer
  • colorectal cancer
  • colorectal carcinoma
  • colorectum carcinoma
  • large bowel cancer
  • large bowel carcinoma
  • large intestine cancer
  • large intestine carcinoma
Mapped terms 5 mapped terms
  • DOID:0080199
  • MONDO:0024331
  • NCIT:C2955
  • UMLS:C0009402
  • UMLS:CN221574
Child trait(s) colon carcinoma

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "colorectal carcinoma" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000376
(PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colon cancer colon carcinoma 1,111,490
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000376/ScoringFiles/PGS000376.txt.gz
PGS000377
(PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colon cancer colon carcinoma 5,740,814
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000377/ScoringFiles/PGS000377.txt.gz
PGS000378
(PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colon cancer colon carcinoma 1,111,399
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000378/ScoringFiles/PGS000378.txt.gz
PGS000379
(PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colon cancer colon carcinoma 5,715,093
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000379/ScoringFiles/PGS000379.txt.gz
PGS000380
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colon cancer colon carcinoma 1,119,238
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000380/ScoringFiles/PGS000380.txt.gz
PGS000381
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colon cancer colon carcinoma 12
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000381/ScoringFiles/PGS000381.txt.gz
PGS000382
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colon cancer colon carcinoma 150
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000382/ScoringFiles/PGS000382.txt.gz
PGS003386
(best_COADREAD)
PGP000413 |
Namba S et al. Cancer Res (2022)
Colorectal cancer colorectal carcinoma 61
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003386/ScoringFiles/PGS003386.txt.gz
PGS003739
(PRS81_CoC)
PGP000470 |
Xin J et al. EBioMedicine (2023)
Colorectal cancer colorectal carcinoma 81
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003739/ScoringFiles/PGS003739.txt.gz
PGS003979
(CRC_PRSCS)
PGP000515 |
Tamlander M et al. Br J Cancer (2023)
Colorectal cancer colorectal carcinoma 1,088,133
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003979/ScoringFiles/PGS003979.txt.gz
PGS004240
(PRS89_CRC)
PGP000541 |
Fan L et al. Int J Cancer (2023)
Colorectal cancer colorectal carcinoma 89
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004240/ScoringFiles/PGS004240.txt.gz
PGS004243
(PRS67_colorectum)
PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
Colorectal cancer colorectal carcinoma 67
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004243/ScoringFiles/PGS004243.txt.gz
PGS004580
(CRC_PRSCS)
PGP000562 |
Youssef Y O et al. Lab Invest (2024)
Colorectal cancer colorectal carcinoma 1,099,906
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004580/ScoringFiles/PGS004580.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

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
PPM001061 PGS000376
(PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608)
PSS000538|
European Ancestry|
5,031 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colon cancer OR: 1.177 [1.069, 1.297]
β: 0.163 (0.0491)
AUROC: 0.547 [0.518, 0.576] Nagelkerke's Pseudo-R²: 0.0046
Brier score: 0.0832
Odds Ratio (OR, top 1% vs. Rest): 1.65 [0.753, 3.61]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608
PPM001062 PGS000377
(PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608)
PSS000538|
European Ancestry|
5,031 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colon cancer OR: 1.174 [1.066, 1.292]
β: 0.16 (0.049)
AUROC: 0.545 [0.518, 0.574] Nagelkerke's Pseudo-R²: 0.00441
Brier score: 0.0831
Odds Ratio (OR, top 1% vs. Rest): 1.4 [0.607, 3.22]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608
PPM001063 PGS000378
(PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608)
PSS000538|
European Ancestry|
5,031 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colon cancer OR: 1.141 [1.038, 1.254]
β: 0.132 (0.0484)
AUROC: 0.536 [0.509, 0.565] Nagelkerke's Pseudo-R²: 0.00301
Brier score: 0.0832
Odds Ratio (OR, top 1% vs. Rest): 1.82 [0.867, 3.84]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608
PPM001064 PGS000379
(PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608)
PSS000538|
European Ancestry|
5,031 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colon cancer OR: 1.143 [1.038, 1.258]
β: 0.134 (0.049)
AUROC: 0.536 [0.51, 0.567] Nagelkerke's Pseudo-R²: 0.00302
Brier score: 0.0832
Odds Ratio (OR, top 1% vs. Rest): 0.757 [0.252, 2.28]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608
PPM001065 PGS000380
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608)
PSS000538|
European Ancestry|
5,031 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colon cancer OR: 1.324 [1.203, 1.457]
β: 0.281 (0.0489)
AUROC: 0.569 [0.539, 0.599] Nagelkerke's Pseudo-R²: 0.0138
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 3.85 [2.19, 6.77]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608
PPM001066 PGS000381
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608)
PSS000538|
European Ancestry|
5,031 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colon cancer OR: 1.212 [1.105, 1.33]
β: 0.193 (0.0472)
AUROC: 0.55 [0.522, 0.577] Nagelkerke's Pseudo-R²: 0.00703
Brier score: 0.0831
Odds Ratio (OR, top 1% vs. Rest): 1.6 [0.733, 3.51]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608
PPM001067 PGS000382
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608)
PSS000538|
European Ancestry|
5,031 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colon cancer OR: 1.247 [1.134, 1.371]
β: 0.221 (0.0483)
AUROC: 0.567 [0.54, 0.594] Nagelkerke's Pseudo-R²: 0.00899
Brier score: 0.083
Odds Ratio (OR, top 1% vs. Rest): 1.17 [0.477, 2.87]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608
PPM016261 PGS003386
(best_COADREAD)
PSS010076|
European Ancestry|
274,069 individuals
PGP000413 |
Namba S et al. Cancer Res (2022)
Reported Trait: colorectal cancer AUROC: 0.724 : 0.0115 age, sex, top 20 genetic principal components
PPM018495 PGS003739
(PRS81_CoC)
PSS010988|
European Ancestry|
470 individuals
PGP000470 |
Xin J et al. EBioMedicine (2023)
Reported Trait: Colorectal cancer OR: 1.37 [1.24, 1.51]
PPM019147 PGS003979
(CRC_PRSCS)
PSS011211|
European Ancestry|
453,733 individuals
PGP000515 |
Tamlander M et al. Br J Cancer (2023)
Reported Trait: Colorectal cancer OR: 1.63 [1.6, 1.67] AUROC: 0.795 [0.791, 0.799] year of birth, sex, ten first principal components of ancestry, genotyping batch, genotyping array
PPM020292 PGS004240
(PRS89_CRC)
PSS011326|
Multi-ancestry (including European)|
3,809 individuals
PGP000541 |
Fan L et al. Int J Cancer (2023)
Reported Trait: Colorectal cancer Hazard ratio (HR, high vs low PRS tertile): 2.51 [2.04, 3.09] Age, sex, red meat intake, BMI, family history of CRC, smoking status, alcohol intake, townsend deprivation index, race, education (College or University degree, vocational qualifications, optional national exams at ages 17 to 18 years, national exams at age 16 years, none of the above, unknown), other common diseases (hypertension, heart diseases, diabetes)
PPM020293 PGS004240
(PRS89_CRC)
PSS011327|
Multi-ancestry (including European)|
125,021 individuals
PGP000541 |
Fan L et al. Int J Cancer (2023)
Reported Trait: Colorectal cancer Hazard ratio (HR, high vs low PRS tertile): 2.48 [2.11, 2.91] Age, sex, red meat intake, BMI, family history of CRC, smoking status, alcohol intake, townsend deprivation index, race, education (College or University degree, vocational qualifications, optional national exams at ages 17 to 18 years, national exams at age 16 years, none of the above, unknown), other common diseases (hypertension, heart diseases, diabetes)
PPM020294 PGS004240
(PRS89_CRC)
PSS011327|
Multi-ancestry (including European)|
125,021 individuals
PGP000541 |
Fan L et al. Int J Cancer (2023)
Reported Trait: Colorectal cancer x Saturated fatty acids interaction HR: 1.14 [1.11, 1.18] Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes)
PPM020295 PGS004240
(PRS89_CRC)
PSS011326|
Multi-ancestry (including European)|
3,809 individuals
PGP000541 |
Fan L et al. Int J Cancer (2023)
Reported Trait: Colorectal cancer x Saturated fatty acids interaction HR: 1.17 [1.12, 1.22] Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes)
PPM020296 PGS004240
(PRS89_CRC)
PSS011327|
Multi-ancestry (including European)|
125,021 individuals
PGP000541 |
Fan L et al. Int J Cancer (2023)
Reported Trait: Colorectal cancer (with saturated fatty acid and clinical risk factors) AUROC: 0.734 [0.72, 0.749] Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes)
PPM020297 PGS004240
(PRS89_CRC)
PSS011326|
Multi-ancestry (including European)|
3,809 individuals
PGP000541 |
Fan L et al. Int J Cancer (2023)
Reported Trait: Colorectal cancer (with saturated fatty acid and clinical risk factors) AUROC: 0.662 [0.64, 0.683] Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes)
PPM020300 PGS004243
(PRS67_colorectum)
PSS011328|
European Ancestry|
133,830 individuals
PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
Reported Trait: Colorectal cancer HR: 1.49 [1.39, 1.61] first 10 genetic principal components
PPM020309 PGS004243
(PRS67_colorectum)
PSS011329|
European Ancestry|
115,207 individuals
PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
Reported Trait: Colorectal cancer HR: 1.51 [1.42, 1.61] first 10 genetic principal components
PPM020695 PGS004580
(CRC_PRSCS)
PSS011366|
European Ancestry|
342,499 individuals
PGP000562 |
Youssef Y O et al. Lab Invest (2024)
Reported Trait: Colorectal cancer OR: 1.5 [1.46, 1.55]

Evaluated Samples

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
PSS011366
[
  • 337,041 cases
  • , 5,458 controls
]
,
44.0 % Male samples
European
(Finnish)
FinnGen
PSS010076 C18, C19, C20
[
  • 4,525 cases
  • , 269,544 controls
]
European
(British)
UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS000538 PheCode:153.2; ICD9CM:153.0, 153.1, 153.2, 153.3, 153.4, 153.5, 153.6, 153.7, 153.8, 153.9, 159.0, 209.10, 209.11, 209.12, 209.13, 209.14, 209.15, 209.16, 230.3, V10.05; ICD10CM:C18, C18.0, C18.1, C18.2, C18.3, C18.4, C18.5, C18.6, C18.7, C18.8, C18.9, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.029, D01.0
[
  • 462 cases
  • , 4,569 controls
]
European MGI
PSS010988 470 individuals Mean = 67.3 years European TCGA
PSS011328 133,830 individuals,
0.0 % Male samples
European
(British)
UKB
PSS011329 115,207 individuals,
100.0 % Male samples
European
(British)
UKB
PSS011211 Colorectal cancer cases were identified through the Finnish Cancer Registry with International Classification of Diseases for Oncology, 3rd Edition (ICD-O-3) codes C18-C20 and from the death registry with ICD-10 codes C18-C20, or ICD-9 codes of 153, 1540 and 154, or ICD-8 codes of 153, 1540 and 1541. Median = 4.1 years
[
  • 8,801 cases
  • , 444,932 controls
]
,
43.9 % Male samples
Mean = 52.9 years
Sd = 18.0 years
European
(Finnish)
FinnGen
PSS011326
[
  • 751 cases
  • , 3,058 controls
]
,
56.4 % Male samples
Mean = 60.9 years
Sd = 6.15 years
European, Asian unspecified, African unspecified, East Asian, Not reported European (>97%), Asian unspecified, African unspecified, East Asian, Not reported UKB
PSS011327
[
  • 1,031 cases
  • , 123,990 controls
]
,
44.9 % Male samples
Mean = 54.9 years
Sd = 7.9 years
European, Asian unspecified, African unspecified, East Asian, Not reported European (>95%), Asian unspecified, African unspecified, East Asian, Not reported UKB