Trait: colorectal cancer

Trait Information
Identifier MONDO_0005575
Description A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples...  include carcinoma, lymphoma, and sarcoma. [NCIT: C4978]Show more
Trait categories
Cancer
Digestive system disorder
Synonyms 39 synonyms
  • CRC
  • cancer of colorectum
  • cancer of large bowel
  • cancer of large intestine
  • cancer of the large bowel
  • colon cancer
  • colon cancer, advanced, somatic
  • colon cancer, somatic
  • colon cancer, susceptibility to, autosomal dominant, somatic mutation
  • colorectal cancer
  • colorectal cancer with chromosomal instability, somatic
  • colorectal cancer, autosomal dominant, somatic mutation
  • colorectal cancer, somatic
  • colorectal cancer, susceptibility to, autosomal dominant, somatic mutation
  • colorectum cancer
  • large intestine cancer
  • malignant colorectal neoplasm
  • malignant colorectal tumor
  • malignant colorectal tumour
  • malignant colorectum neoplasm
  • malignant large bowel neoplasm
  • malignant large bowel tumor
  • malignant large bowel tumour
  • malignant large intestine neoplasm
  • malignant large intestine tumor
  • malignant large intestine tumour
  • malignant neoplasm of colorectum
  • malignant neoplasm of large bowel
  • malignant neoplasm of large intestine
  • malignant neoplasm of the large bowel
  • malignant neoplasm of the large intestine
  • malignant tumor of large bowel
  • malignant tumor of large intestine
  • malignant tumor of the large bowel
  • malignant tumor of the large intestine
  • malignant tumour of large bowel
  • malignant tumour of large intestine
  • malignant tumour of the large bowel
  • malignant tumour of the large intestine
Mapped terms 8 mapped terms
  • DOID:5672
  • DOID:9256
  • MEDGEN:83428
  • NCIT:C4978
  • OMIM:114500
  • Orphanet:466667
  • SCTID:363510005
  • UMLS:C0346629
Child trait(s) 3 child traits

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 cancer" and any child terms of this trait in the EFO hierarchy by default.
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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)
PGS000055
(PRS_CRC)
PGP000040 |
Schmit SL et al. J Natl Cancer Inst (2019)
Colorectal cancercolorectal cancer76
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000055/ScoringFiles/PGS000055.txt.gz
PGS000074
(CC_Colorectal)
PGP000050 |
Graff RE et al. Nat Commun (2021)
Colorectal cancercolorectal cancer103
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000074/ScoringFiles/PGS000074.txt.gz
PGS000146
(CRC_GRS_27)
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Colorectal cancercolorectal cancer27
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000146/ScoringFiles/PGS000146.txt.gz
PGS000147
(CRC21)
PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
Colorectal cancercolorectal cancer21
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000147/ScoringFiles/PGS000147.txt.gz
PGS000148
(CRC63)
PGP000071 |
Jeon J et al. Gastroenterology (2018)
Colorectal cancercolorectal cancer63
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000148/ScoringFiles/PGS000148.txt.gz
PGS000149
(CRC41)
PGP000072 |
Smith T et al. Br J Cancer (2018)
Colorectal cancercolorectal cancer41
-
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000149/ScoringFiles/PGS000149.txt.gz
PGS000150
(GRS48)
PGP000073 |
Weigl K et al. Gastroenterology (2018)
Colorectal cancercolorectal cancer48
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000150/ScoringFiles/PGS000150.txt.gz
PGS000151
(SC_GRS)
PGP000074 |
Xin J et al. Gene (2018)
Colorectal cancercolorectal cancer14
-
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000151/ScoringFiles/PGS000151.txt.gz
PGS000154
(cGRS_Colorectal)
PGP000075 |
Shi Z et al. Cancer Med (2019)
Colorectal cancercolorectal cancer30
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000154/ScoringFiles/PGS000154.txt.gz
PGS000367
(PRSWEB_PHECODE153_CRC-Huyghe_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancercolorectal cancer74
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000367/ScoringFiles/PGS000367.txt.gz
PGS000368
(PRSWEB_PHECODE153_CRC-Huyghe_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancercolorectal cancer74
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000368/ScoringFiles/PGS000368.txt.gz
PGS000369
(PRSWEB_PHECODE153_CRC-Huyghe_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancercolorectal cancer81
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000369/ScoringFiles/PGS000369.txt.gz
PGS000370
(PRSWEB_PHECODE153_CRC-Huyghe_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancercolorectal cancer87
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000370/ScoringFiles/PGS000370.txt.gz
PGS000371
(PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancercolorectal cancer18
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000371/ScoringFiles/PGS000371.txt.gz
PGS000372
(PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancercolorectal cancer27
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000372/ScoringFiles/PGS000372.txt.gz
PGS000373
(PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancercolorectal cancer1,119,238
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000373/ScoringFiles/PGS000373.txt.gz
PGS000374
(PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancercolorectal cancer41
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000374/ScoringFiles/PGS000374.txt.gz
PGS000375
(PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancercolorectal cancer370
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000375/ScoringFiles/PGS000375.txt.gz
PGS000376
(PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colon cancercolon carcinoma1,111,490
G
D
E
 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 cancercolon carcinoma5,740,814
G
D
E
 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 cancercolon carcinoma1,111,399
G
D
E
 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 cancercolon carcinoma5,715,093
G
D
E
 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 cancercolon carcinoma1,119,238
G
D
E
 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 cancercolon carcinoma12
G
D
E
 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 cancercolon carcinoma150
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000382/ScoringFiles/PGS000382.txt.gz
PGS000383
(PRSWEB_PHECODE153.3_C19_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of rectum, rectosigmoid junction, and anusrectum cancer,
rectosigmoid junction neoplasm		1,078,799
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000383/ScoringFiles/PGS000383.txt.gz
PGS000384
(PRSWEB_PHECODE153.3_C3-RECTUM_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of rectum, rectosigmoid junction, and anusrectum cancer,
rectosigmoid junction neoplasm		1,104,018
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000384/ScoringFiles/PGS000384.txt.gz
PGS000720
(PRS_Colorectal)
PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
Colorectal cancercolorectal cancer95
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000720/ScoringFiles/PGS000720.txt.gz
PGS000734
(PRS95_CRC)
PGP000142 |
Archambault AN et al. Gastroenterology (2019)
Colorectal cancercolorectal cancer95
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000734/ScoringFiles/PGS000734.txt.gz
PGS000765
(PRS_CRC95)
PGP000170 |
Huyghe JR et al. Nat Genet (2018)
Colorectal cancercolorectal cancer95
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000765/ScoringFiles/PGS000765.txt.gz
PGS000785
(CC_Colorectal_IV)
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Colorectal cancercolorectal cancer103
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000785/ScoringFiles/PGS000785.txt.gz
PGS000801
(GRS40_CRC)
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Colorectal cancercolorectal cancer40
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000801/ScoringFiles/PGS000801.txt.gz
PGS000802
(CRC_19)
PGP000191 |
He CY et al. Genomics (2021)
Colorectal cancercolorectal cancer19
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000802/ScoringFiles/PGS000802.txt.gz
PGS001776
(PRS45_CC)
PGP000256 |
Gafni A et al. PLoS One (2021)
Colorectal cancercolorectal cancer45
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001776/ScoringFiles/PGS001776.txt.gz
PGS001802
(portability-PLR_153)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Colorectal cancercolorectal cancer2,821
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001802/ScoringFiles/PGS001802.txt.gz
PGS002013
(portability-ldpred2_153)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Colorectal cancercolorectal cancer648,559
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002013/ScoringFiles/PGS002013.txt.gz
PGS002252
(PRS_CRC)
PGP000279 |
Archambault AN et al. J Natl Cancer Inst (2022)
Colorectal cancercolorectal cancer141
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002252/ScoringFiles/PGS002252.txt.gz
PGS002265
(PRS140_CRC)
PGP000294 |
Thomas M et al. Am J Hum Genet (2020)
Colorectal cancercolorectal cancer140
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002265/ScoringFiles/PGS002265.txt.gz
PGS002742
(PRS115_EAS)
PGP000354 |
Ping J et al. Int J Cancer (2022)
Colorectal cancercolorectal cancer115
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002742/ScoringFiles/PGS002742.txt.gz
PGS002743
(PRS115_EUR)
PGP000354 |
Ping J et al. Int J Cancer (2022)
Colorectal cancercolorectal cancer115
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002743/ScoringFiles/PGS002743.txt.gz
PGS002744
(PRS115_EUR_EAS)
PGP000354 |
Ping J et al. Int J Cancer (2022)
Colorectal cancercolorectal cancer115
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002744/ScoringFiles/PGS002744.txt.gz
PGS002758
(Colorectal_cancer_prscs)
PGP000364 |
Mars N et al. Am J Hum Genet (2022)
Colorectal cancercolorectal cancer1,087,843
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002758/ScoringFiles/PGS002758.txt.gz
PGS003386
(best_COADREAD)
PGP000413 |
Namba S et al. Cancer Res (2022)
Colorectal cancercolorectal carcinoma61
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003386/ScoringFiles/PGS003386.txt.gz
PGS003395
(PRScsx_CRC)
PGP000414 |
Xin J et al. Genome Med (2023)
Colorectal cancercolorectal cancer1,145,689
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003395/ScoringFiles/PGS003395.txt.gz
PGS003431
(LDPred2-inf)
PGP000438 |
Briggs SEW et al. BMJ (2022)
Colorectal cancercolorectal cancer1,104,409
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003431/ScoringFiles/PGS003431.txt.gz
PGS003432
(LDPred2-grid)
PGP000438 |
Briggs SEW et al. BMJ (2022)
Colorectal cancercolorectal cancer1,104,409
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003432/ScoringFiles/PGS003432.txt.gz
PGS003433
(LDPred2-grid-sp)
PGP000438 |
Briggs SEW et al. BMJ (2022)
Colorectal cancercolorectal cancer616,956
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003433/ScoringFiles/PGS003433.txt.gz
PGS003434
(SCT)
PGP000438 |
Briggs SEW et al. BMJ (2022)
Colorectal cancercolorectal cancer194,756
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003434/ScoringFiles/PGS003434.txt.gz
PGS003435
(CT)
PGP000438 |
Briggs SEW et al. BMJ (2022)
Colorectal cancercolorectal cancer13,446
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003435/ScoringFiles/PGS003435.txt.gz
PGS003436
(GWAS-sig)
PGP000438 |
Briggs SEW et al. BMJ (2022)
Colorectal cancercolorectal cancer50
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003436/ScoringFiles/PGS003436.txt.gz
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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.

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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
PPM000139PGS000055
(PRS_CRC)
PSS000087|
European Ancestry|
61,335 individuals
PGP000040 |
Schmit SL et al. J Natl Cancer Inst (2019)
Reported Trait: Colorectal cancer——Familial relative risk explained (%): 11.9 [9.2, 15.5]
PRS percentile threshold for Odds Ratio > 2: 95.7		age, sex, PCs, PC*study—
PPM000140PGS000055
(PRS_CRC)
PSS000086|
East Asian Ancestry|
21,630 individuals
PGP000040 |
Schmit SL et al. J Natl Cancer Inst (2019)
Reported Trait: Colorectal cancer——PRS percentile threshold for Odds Ratio > 2: 99.1age, sex, PCs, PC*study—
PPM000194PGS000074
(CC_Colorectal)
PSS000113|
European Ancestry|
416,249 individuals
PGP000050 |
Graff RE et al. Nat Commun (2021)
Reported Trait: Colorectal cancerOR: 1.37 [1.33, 1.4]——Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs.Results from meta-analysis of GERA and UKB
PPM000438PGS000146
(CRC_GRS_27)
PSS000254|
European Ancestry|
3,292 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Proximal colon cancerOR: 1.07 [1.04, 1.1]——Study, age, endoscopy, family history—
PPM000439PGS000146
(CRC_GRS_27)
PSS000252|
European Ancestry|
3,269 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Distal colon cancerOR: 1.08 [1.06, 1.11]——Study, age, endoscopy, family history—
PPM000440PGS000146
(CRC_GRS_27)
PSS000256|
European Ancestry|
3,167 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Rectal cancerOR: 1.06 [1.03, 1.09]——Study, age, endoscopy, family history—
PPM000441PGS000146
(CRC_GRS_27)
PSS000253|
European Ancestry|
5,530 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Proximal colon cancerOR: 1.06 [1.03, 1.08]——Study, age, endoscopy, family history—
PPM000442PGS000146
(CRC_GRS_27)
PSS000251|
European Ancestry|
4,886 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Distal colon cancerOR: 1.08 [1.05, 1.1]——Study, age, endoscopy, family history—
PPM000443PGS000146
(CRC_GRS_27)
PSS000255|
European Ancestry|
4,573 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Rectal cancerOR: 1.12 [1.08, 1.15]——Study, age, endoscopy, family history—
PPM000444PGS000146
(CRC_GRS_27)
PSS000258|
European Ancestry|
1,002 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Colorectal cancer—AUROC: 0.59 [0.54, 0.64]—Age, endoscopy, family history—
PPM000445PGS000146
(CRC_GRS_27)
PSS000257|
European Ancestry|
733 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Colorectal cancer—AUROC: 0.56 [0.51, 0.61]—Age, endoscopy, family history—
PPM000446PGS000147
(CRC21)
PSS000259|
European Ancestry|
4,080 individuals
PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
Reported Trait: Colon cancer——Odds Ratio (OR; per allele): 1.06 [1.03, 1.09]environmental risk factors ( alcohol consumption, obesity, physical activity, red meat and vegetable...  consumption, nonsteroidal anti-inflammatory drug use), family historyShow more—
PPM000447PGS000147
(CRC21)
PSS000259|
European Ancestry|
4,080 individuals
PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
Reported Trait: Rectal cancer——Odds Ratio (OR; per allele): 1.1 [1.06, 1.15]environmental risk factors ( alcohol consumption, obesity, physical activity, red meat and vegetable...  consumption, nonsteroidal anti-inflammatory drug use), family historyShow more—
PPM000448PGS000147
(CRC21)
PSS000259|
European Ancestry|
4,080 individuals
PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
Reported Trait: Colorectal cancer—AUROC: 0.63 [0.6, 0.66]Odds Ratio (OR; per allele): 1.07 [1.04, 1.1]environmental risk factors ( alcohol consumption, obesity, physical activity, red meat and vegetable...  consumption, nonsteroidal anti-inflammatory drug use), family historyShow more—
PPM000449PGS000147
(CRC21)
PSS000259|
European Ancestry|
4,080 individuals
PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
Reported Trait: Colorectal cancer—AUROC: 0.56 [0.54, 0.58]———
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Evaluated Samples

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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
PSS000086——
[
  • 8,580 cases
  • , 13,050 controls
]
—East Asian—8 cohorts
  • COLON
  • ,CORSA
  • ,DACHS
  • ,EPIC
  • ,HPFS
  • ,MGI
  • ,NHS
  • ,UKB
—
PSS000087——
[
  • 12,952 cases
  • , 48,383 controls
]
—European—8 cohorts
  • COLON
  • ,CORSA
  • ,DACHS
  • ,EPIC
  • ,HPFS3
  • ,MGI
  • ,NHS3
  • ,UKB
—
PSS000113Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 code... s in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 21041 - 21049, 21051, 21052, and 21060Show more—
[
  • 5,895 cases
  • , 410,354 controls
]
,
46.0 % Male samples
Mean = 58.0 yearsEuropean—GERA, UKB—
PSS000251Colorectal adenocarcinoma located in the distal colon confirmed by medical records, pathology report... s, or death certificateShow more—
[
  • 1,026 cases
  • , 3,860 controls
]
,
0.0 % Male samples
—European—6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000252Colorectal adenocarcinoma located in the distal colon confirmed by medical records, pathology report... s, or death certificateShow more—
[
  • 827 cases
  • , 2,442 controls
]
,
100.0 % Male samples
—European—6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000253Colorectal adenocarcinoma located in the proximal colon confirmed by medical records, pathology repo... rts, or death certificateShow more—
[
  • 1,670 cases
  • , 3,860 controls
]
,
0.0 % Male samples
—European—6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000254Colorectal adenocarcinoma located in the proximal colon confirmed by medical records, pathology repo... rts, or death certificateShow more—
[
  • 850 cases
  • , 2,442 controls
]
,
100.0 % Male samples
—European—6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000255Colorectal adenocarcinoma located in the rectum confirmed by medical records, pathology reports, or ... death certificateShow more—
[
  • 713 cases
  • , 3,860 controls
]
,
0.0 % Male samples
—European—6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000256Colorectal adenocarcinoma located in the rectum confirmed by medical records, pathology reports, or ... death certificateShow more—
[
  • 725 cases
  • , 2,442 controls
]
,
100.0 % Male samples
—European—6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000257Colorectal adenocarcinoma confirmed by medical records, pathology reports, or death certificate—
[
  • 380 cases
  • , 353 controls
]
,
0.0 % Male samples
—European—6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000258Colorectal adenocarcinoma confirmed by medical records, pathology reports, or death certificate—
[
  • 486 cases
  • , 516 controls
]
,
100.0 % Male samples
—European—6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000259——
[
  • 1,336 cases
  • , 2,744 controls
]
,
57.21 % Male samples
Range = [25.0, 90.0] yearsEuropean
(Spanish)		—MCC-Spain—
PSS000260——
[
  • 2,568 cases
  • , 2,932 controls
]
,
0.0 % Male samples
Mean (Cases) = 68.8 years
Sd (Cases) = 9.7 years		European—14 cohorts
  • CPSII
  • ,DACHS
  • ,DALS
  • ,HPFS
  • ,Hawaiian_Colo2&3
  • ,KCCS
  • ,MCCS
  • ,MEC
  • ,MECC
  • ,NFCCR
  • ,NHS
  • ,PLCO
  • ,VITAL
  • ,WHI
—
PSS000261——
[
  • 2,307 cases
  • , 2,359 controls
]
,
100.0 % Male samples
Mean (Cases) = 67.8 years
Sd (Cases) = 9.7 years		European—14 cohorts
  • CPSII
  • ,DACHS
  • ,DALS
  • ,HPFS
  • ,Hawaiian_Colo2&3
  • ,KCCS
  • ,MCCS
  • ,MEC
  • ,MECC
  • ,NFCCR
  • ,NHS
  • ,PLCO
  • ,VITAL
  • ,WHI
—
PSS000262Excluding participants with prevalent cancer at recruitment colorectal cancer was defined as ICD cod... es: C18 (except C18.1, Appendix), C19 and C20Show more—
[
  • 1,623 cases
  • , 359,920 controls
]
,
45.0 % Male samples
Mean = 57.0 years
IQR = [50.0, 63.0] years		European—UKBFollow-up time = 1,751,445 person years
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