PGS Publication: PGP000413

Publication Information (EuropePMC)
Title Common germline risk variants impact somatic alterations and clinical features across cancers.
PubMed ID 36286845(Europe PMC)
doi 10.1158/0008-5472.can-22-1492
Publication Date Oct. 26, 2022
Journal Cancer Res
Author(s) Namba S, Saito Y, Kogure Y, Masuda T, Bondy ML, Gharahkhani P, Gockel I, Heider D, Hillmer A, Jankowski J, MacGregor S, Maj C, Melin B, Ostrom QT, Palles C, Schumacher J, Tomlinson I, Whiteman DC, Okada Y, Kataoka K.
Released in PGS Catalog: Jan. 19, 2023

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

PGS Developed By This Publication

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)
PGS003380
(best_BRCA)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Breast cancer breast carcinoma 1,142,637
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003380/ScoringFiles/PGS003380.txt.gz
PGS003383
(best_PRAD)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Prostate adenocarcinoma prostate adenocarcinoma 168,700
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003383/ScoringFiles/PGS003383.txt.gz
PGS003381
(best_UCEC)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Uterine endometrial carcinoma endometrial carcinoma 529,365
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003381/ScoringFiles/PGS003381.txt.gz
PGS003385
(best_OV)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Ovarian serous carcinoma ovarian serous carcinoma 144,810
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003385/ScoringFiles/PGS003385.txt.gz
PGS003387
(best_ESCA_BEEA)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Esophageal adenocarcinoma or Barrett’s esophagus Barrett's esophagus,
esophageal adenocarcinoma		 601,980
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003387/ScoringFiles/PGS003387.txt.gz
PGS003389
(best_CESC)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Cervical cancer cervical carcinoma 2,814
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003389/ScoringFiles/PGS003389.txt.gz
PGS003382
(best_SKCM)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Skin cutaneous melanoma cutaneous melanoma 672
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003382/ScoringFiles/PGS003382.txt.gz
PGS003393
(best_LUAD)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Lung adenocarcinoma lung adenocarcinoma 74
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003393/ScoringFiles/PGS003393.txt.gz
PGS003384
(best_GBM)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Glioblastoma glioblastoma 910
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003384/ScoringFiles/PGS003384.txt.gz
PGS003390
(best_HNSC)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Head and neck squamous cell carcinoma head and neck squamous cell carcinoma 931,477
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003390/ScoringFiles/PGS003390.txt.gz
PGS003392
(best_LUSC)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Lung squamous cell carcinoma squamous cell lung carcinoma 90
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003392/ScoringFiles/PGS003392.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
PGS003388
(best_ESCA_EA)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Esophageal adenocarcinoma esophageal adenocarcinoma 356,743
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003388/ScoringFiles/PGS003388.txt.gz
PGS003391
(best_LUCA)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Lung cancer lung carcinoma 133
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003391/ScoringFiles/PGS003391.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
PPM016256 PGS003381
(best_UCEC)
 PSS010086|
European Ancestry|
144,479 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: uterine endometrial carcinoma — AUROC: 0.761 R²: 0.11 age, top 20 genetic principal components —
PPM016257 PGS003382
(best_SKCM)
 PSS010085|
European Ancestry|
273,786 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: skin cutaneous melanoma — AUROC: 0.682 R²: 0.0261 age, sex, top 20 genetic principal components —
PPM016258 PGS003383
(best_PRAD)
 PSS010084|
European Ancestry|
133,752 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: prostate adenocarcinoma — AUROC: 0.813 R²: 0.0798 age, top 20 genetic principal components —
PPM016259 PGS003384
(best_GBM)
 PSS010078|
European Ancestry|
269,806 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: glioblastoma — AUROC: 0.758 R²: 0.0216 age, sex, top 20 genetic principal components —
PPM016260 PGS003385
(best_OV)
 PSS010083|
European Ancestry|
143,259 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: ovarian serous carcinoma — AUROC: 0.717 R²: 0.0142 age, top 20 genetic principal components —
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 R²: 0.0115 age, sex, top 20 genetic principal components —
PPM016262 PGS003387
(best_ESCA_BEEA)
 PSS010077|
European Ancestry|
270,026 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: esophageal adenocarcinoma — AUROC: 0.819 R²: 0.0123 age, sex, top 20 genetic principal components —
PPM016263 PGS003388
(best_ESCA_EA)
 PSS010077|
European Ancestry|
270,026 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: esophageal adenocarcinoma — AUROC: 0.814 R²: 0.00875 age, sex, top 20 genetic principal components —
PPM016264 PGS003389
(best_CESC)
 PSS010075|
European Ancestry|
144,374 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: cervical cancer — AUROC: 0.563 R²: 0.00158 age, top 20 genetic principal components —
PPM016266 PGS003391
(best_LUCA)
 PSS010081|
European Ancestry|
271,540 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: lung cancer — AUROC: 0.729 R²: 0.00135 age, sex, top 20 genetic principal components —
PPM016267 PGS003392
(best_LUSC)
 PSS010082|
European Ancestry|
270,054 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: lung squamous cell carcinoma — AUROC: 0.778 R²: 0.00075 age, sex, top 20 genetic principal components —
PPM016268 PGS003393
(best_LUAD)
 PSS010080|
European Ancestry|
270,412 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: lung adenocarcinoma — AUROC: 0.743 R²: 0.00649 age, sex, top 20 genetic principal components —
PPM016255 PGS003380
(best_BRCA)
 PSS010074|
European Ancestry|
154,361 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: breast cancer — AUROC: 0.696 R²: 0.0555 age, top 20 genetic principal components —
PPM016265 PGS003390
(best_HNSC)
 PSS010079|
European Ancestry|
270,233 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: head and neck squamous cell carcinoma — AUROC: 0.672 R²: 0.00561 age, sex, top 20 genetic principal components —

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
PSS010074 C50 —
[
  • 11,469 cases
  • , 142,892 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010075 C53 —
[
  • 1,482 cases
  • , 142,892 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010076 C18, C19, C20 —
[
  • 4,525 cases
  • , 269,544 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010077 C15, histology was one of the followings: Adenocarcinoma, NOS; Adenocarcinoma, intestinal type; Adenocarcinoma in tubulovillous adenoma —
[
  • 482 cases
  • , 269,544 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010078 C71, histology was either Giant cell glioblastoma or Glioblastoma (NOS) —
[
  • 262 cases
  • , 269,544 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010079 C01-06, C09, C10, C13, C14 —
[
  • 689 cases
  • , 269,544 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010080 C34, histology was one of the followings: Squamous cell carcinoma; Squamous cell carcinoma, keratinizing; Squamous cell carcinoma, large cell, non-keratinizing; Squamous cell carcinoma, micro-invasive; Squamous cell carcinoma, small cell, non-keratinizing —
[
  • 868 cases
  • , 269,544 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010081 C34 —
[
  • 1,996 cases
  • , 269,544 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010082 C34, histology was one of the followings: Adenocarcinoma, intestinal type; Adenocarcinoma in tubulovillous adenoma; Adenocarcinoma in villous adenoma; Adenocarcinoma (NOS) —
[
  • 510 cases
  • , 269,544 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010083 C56, histology was one of the followings: Papillary serous cystadenocarcinoma; Serous cystadenocarcinoma; Serous cystadenoma, borderline malignancy; Serous papillary cystic tumor of borderline malignancy; Serous surface papillary carcinoma —
[
  • 367 cases
  • , 142,892 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010084 C61 —
[
  • 7,100 cases
  • , 126,652 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010085 C43 —
[
  • 4,242 cases
  • , 269,544 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010086 C54 —
[
  • 1,587 cases
  • , 142,892 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer