Trait: rectosigmoid junction neoplasm

Trait Information
Identifier MONDO_0002423
Description A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. [NCIT: C4877]
Trait category
Other trait
Synonyms 12 synonyms
  • neoplasm of rectosigmoid junction
  • neoplasm of the rectosigmoid junction
  • rectosigmoid junction neoplasm (disease)
  • rectosigmoid junction tumor
  • rectosigmoid junction tumour
  • rectosigmoid neoplasm
  • rectosigmoid tumor
  • rectosigmoid tumour
  • tumor of rectosigmoid junction
  • tumor of the rectosigmoid junction
  • tumour of rectosigmoid junction
  • tumour of the rectosigmoid junction
Mapped terms 5 mapped terms
  • DOID:2780
  • MEDGEN:87517
  • NCIT:C4877
  • SCTID:126848003
  • UMLS:C0345873

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
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)
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 anus rectosigmoid junction neoplasm,
rectal cancer		 1,078,799
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 anus rectosigmoid junction neoplasm,
rectal cancer		 1,104,018
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000384/ScoringFiles/PGS000384.txt.gz
PGS018495
(TPMI_153.3_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of rectum rectosigmoid junction and anus rectosigmoid junction neoplasm 133,830
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018495/ScoringFiles/PGS018495.txt.gz
PGS018496
(TPMI_153.3_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of rectum rectosigmoid junction and anus rectosigmoid junction neoplasm 939,895
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018496/ScoringFiles/PGS018496.txt.gz
PGS018497
(TPMI_153.3_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of rectum rectosigmoid junction and anus rectosigmoid junction neoplasm 21,604
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018497/ScoringFiles/PGS018497.txt.gz
PGS018498
(TPMI_153.3_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of rectum rectosigmoid junction and anus rectosigmoid junction neoplasm 983,831
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018498/ScoringFiles/PGS018498.txt.gz
PGS018499
(TPMI_153.3_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of rectum rectosigmoid junction and anus rectosigmoid junction neoplasm 1,000,378
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018499/ScoringFiles/PGS018499.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
PPM001068 PGS000383
(PRSWEB_PHECODE153.3_C19_PRS-CS_MGI_20200608)
 PSS000539|
European Ancestry|
3,557 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Malignant neoplasm of rectum, rectosigmoid junction, and anus OR: 1.126 [1.005, 1.262]
β: 0.119 (0.0579)		 AUROC: 0.533 [0.5, 0.567] Nagelkerke's Pseudo-R²: 0.00257
Brier score: 0.0829
Odds Ratio (OR, top 1% vs. Rest): 1.34 [0.491, 3.65]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.3_C19_PRS-CS_MGI_20200608
PPM001069 PGS000384
(PRSWEB_PHECODE153.3_C3-RECTUM_PRS-CS_MGI_20200608)
 PSS000539|
European Ancestry|
3,557 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Malignant neoplasm of rectum, rectosigmoid junction, and anus OR: 1.122 [1.001, 1.257]
β: 0.115 (0.058)		 AUROC: 0.531 [0.495, 0.563] Nagelkerke's Pseudo-R²: 0.00251
Brier score: 0.0829
Odds Ratio (OR, top 1% vs. Rest): 1.02 [0.334, 3.14]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.3_C3-RECTUM_PRS-CS_MGI_20200608
PPM036677 PGS018495
(TPMI_153.3_Lassosum2)
 PSS012393|
East Asian Ancestry|
16,918 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of rectum rectosigmoid junction and anus — AUROC: 0.64845 R²: 0.01445 sex, age, array, PCs 1-10 —
PPM036678 PGS018496
(TPMI_153.3_LDpred2)
 PSS012392|
East Asian Ancestry|
16,918 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of rectum rectosigmoid junction and anus — AUROC: 0.64998 R²: 0.01477 sex, age, array, PCs 1-10 —
PPM036679 PGS018497
(TPMI_153.3_MegaPRS)
 PSS012394|
East Asian Ancestry|
16,918 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of rectum rectosigmoid junction and anus — AUROC: 0.6481 R²: 0.01452 sex, age, array, PCs 1-10 —
PPM036680 PGS018498
(TPMI_153.3_PRS-CS)
 PSS012395|
East Asian Ancestry|
16,918 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of rectum rectosigmoid junction and anus — AUROC: 0.64899 R²: 0.01469 sex, age, array, PCs 1-10 —
PPM036681 PGS018499
(TPMI_153.3_SBayesR)
 PSS012396|
East Asian Ancestry|
16,918 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of rectum rectosigmoid junction and anus — AUROC: 0.64811 R²: 0.01447 sex, age, array, PCs 1-10 —

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
PSS012392 154, 209.17, 230.4, 230.5, 230.6, 796.7, V10.06,C19, C20, C21.0, C21.1, C7A.026, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619, Z85.04 —
[
  • 337 cases
  • , 16,581 controls
]
,
44.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012393 154, 209.17, 230.4, 230.5, 230.6, 796.7, V10.06,C19, C20, C21.0, C21.1, C7A.026, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619, Z85.04 —
[
  • 337 cases
  • , 16,581 controls
]
,
44.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012394 154, 209.17, 230.4, 230.5, 230.6, 796.7, V10.06,C19, C20, C21.0, C21.1, C7A.026, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619, Z85.04 —
[
  • 337 cases
  • , 16,581 controls
]
,
44.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012395 154, 209.17, 230.4, 230.5, 230.6, 796.7, V10.06,C19, C20, C21.0, C21.1, C7A.026, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619, Z85.04 —
[
  • 337 cases
  • , 16,581 controls
]
,
44.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012396 154, 209.17, 230.4, 230.5, 230.6, 796.7, V10.06,C19, C20, C21.0, C21.1, C7A.026, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619, Z85.04 —
[
  • 337 cases
  • , 16,581 controls
]
,
44.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS000539 PheCode:153.3; ICD9CM:154.0, 154.1, 154.2, 154.3, 209.17, 230.4, 230.5, 230.6, 796.70, 796.71, 796.72, 796.73, 796.74, 796.76, V10.06; ICD10CM:C19, C20, C21.0, C21.1, C7A.026, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619 —
[
  • 325 cases
  • , 3,232 controls
]
 — European — MGI —