PGS Publication: PGP000088

Publication Information (EuropePMC)
Title Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.
PubMed ID 32424353(Europe PMC)
doi 10.1038/s41588-020-0609-2
Publication Date May 18, 2020
Journal Nat Genet
Author(s) Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, Qi G, Jiang X, O'Mara TA, Zhao N, Bolla MK, Dunning AM, Dennis J, Wang Q, Ful ZA, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Arun BK, Auer PL, Azzollini J, Barrowdale D, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bialkowska K, Blanco A, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Bondavalli D, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brucker SY, Brüning T, Burwinkel B, Buys SS, Byers H, Caldés T, Caligo MA, Calvello M, Campa D, Castelao JE, Chang-Claude J, Chanock SJ, Christiaens M, Christiansen H, Chung WK, Claes KBM, Clarke CL, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Diez O, Domchek SM, Dörk T, Dwek M, Eccles DM, Ekici AB, Evans DG, Fasching PA, Figueroa J, Foretova L, Fostira F, Friedman E, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Häberle L, Hahnen E, Haiman CA, Hake CR, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huebner H, Hulick PJ, Imyanitov EN, kConFab Investigators, ABCTB Investigators, Isaacs C, Izatt L, Jager A, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khan S, Khusnutdinova E, Kitahara CM, Ko YD, Konstantopoulou I, Koppert LB, Koutros S, Kristensen VN, Laenkholm AV, Lambrechts D, Larsson SC, Laurent-Puig P, Lazaro C, Lazarova E, Lejbkowicz F, Leslie G, Lesueur F, Lindblom A, Lissowska J, Lo WY, Loud JT, Lubinski J, Lukomska A, MacInnis RJ, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Matricardi L, McGuffog L, McLean C, Mebirouk N, Meindl A, Menon U, Miller A, Mingazheva E, Montagna M, Mulligan AM, Mulot C, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Nielsen FC, Nikitina-Zake L, Nodora J, Offit K, Olah E, Olopade OI, Olsson H, Orr N, Papi L, Papp J, Park-Simon TW, Parsons MT, Peissel B, Peixoto A, Peshkin B, Peterlongo P, Peto J, Phillips KA, Piedmonte M, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Prokofyeva D, Rack B, Radice P, Ramus SJ, Rantala J, Rashid MU, Rennert G, Rennert HS, Risch HA, Romero A, Rookus MA, Rübner M, Rüdiger T, Saloustros E, Sampson S, Sandler DP, Sawyer EJ, Scheuner MT, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schöttker B, Schürmann P, Senter L, Sharma P, Sherman ME, Shu XO, Singer CF, Smichkoska S, Soucy P, Southey MC, Spinelli JJ, Stone J, Stoppa-Lyonnet D, EMBRACE Study, GEMO Study Collaborators, Swerdlow AJ, Szabo CI, Tamimi RM, Tapper WJ, Taylor JA, Teixeira MR, Terry M, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van den Ouweland AMW, van der Kolk LE, van Veen EM, vanRensburg EJ, Vega A, Wappenschmidt B, Weinberg CR, Weitzel JN, Wildiers H, Winqvist R, Wolk A, Yang XR, Yannoukakos D, Zheng W, Zorn KK, Milne RL, Kraft P, Simard J, Pharoah PDP, Michailidou K, Antoniou AC, Schmidt MK, Chenevix-Trench G, Easton DF, Chatterjee N, García-Closas M.
Released in PGS Catalog: July 14, 2020

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)
PGS000215
(PRS330_HER2)
 PGP000088 |
Zhang H et al. Nat Genet (2020)
 Breast cancer intrinsic-like subtype (HER2-enriched-like) HER2 Positive Breast Carcinoma 330
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000215/ScoringFiles/PGS000215.txt.gz
PGS000213
(PRS330_LumBHER2neg)
 PGP000088 |
Zhang H et al. Nat Genet (2020)
 Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) HER2 negative breast carcinoma 330
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000213/ScoringFiles/PGS000213.txt.gz
PGS000216
(PRS330_TN)
 PGP000088 |
Zhang H et al. Nat Genet (2020)
 Breast cancer intrinsic-like subtype (triple negative) triple-negative breast cancer 330
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000216/ScoringFiles/PGS000216.txt.gz
PGS000214
(PRS330_LumB)
 PGP000088 |
Zhang H et al. Nat Genet (2020)
 Breast cancer intrinsic-like subtype (luminal B-like) luminal B breast carcinoma 330
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000214/ScoringFiles/PGS000214.txt.gz
PGS000212
(PRS330_LumA)
 PGP000088 |
Zhang H et al. Nat Genet (2020)
 Breast cancer intrinsic-like subtype (luminal A-like) luminal A breast carcinoma 330
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000212/ScoringFiles/PGS000212.txt.gz

External PGS Evaluated 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)
PGS000004
(PRS313_BC)
 PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
 Breast cancer breast carcinoma 313
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000004/ScoringFiles/PGS000004.txt.gz
PGS000005
(PRS313_ERpos)
 PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
 ER-positive breast cancer estrogen-receptor positive breast cancer 313
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000005/ScoringFiles/PGS000005.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
PPM000654 PGS000005
(PRS313_ERpos)
 PSS000361|
European Ancestry|
22,594 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.		 Reported Trait: Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) OR: 1.62 [1.54, 1.7] AUROC: 0.6323 — — —
PPM000663 PGS000005
(PRS313_ERpos)
 PSS000363|
European Ancestry|
22,821 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.		 Reported Trait: Breast cancer intrinsic-like subtype (triple negative) OR: 1.59 [1.51, 1.66] AUROC: 0.6276 — — —
PPM000662 PGS000004
(PRS313_BC)
 PSS000363|
European Ancestry|
22,821 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.		 Reported Trait: Breast cancer intrinsic-like subtype (triple negative) OR: 1.38 [1.31, 1.44] AUROC: 0.5877 — — —
PPM000661 PGS000216
(PRS330_TN)
 PSS000363|
European Ancestry|
22,821 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
 Reported Trait: Breast cancer intrinsic-like subtype (triple negative) OR: 1.65 [1.57, 1.73] AUROC: 0.6358 — — —
PPM000660 PGS000005
(PRS313_ERpos)
 PSS000359|
European Ancestry|
21,533 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.		 Reported Trait: Breast cancer intrinsic-like subtype (HER2-enriched-like) OR: 1.59 [1.48, 1.71] AUROC: 0.6291 — — —
PPM000659 PGS000004
(PRS313_BC)
 PSS000359|
European Ancestry|
21,533 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.		 Reported Trait: Breast cancer intrinsic-like subtype (HER2-enriched-like) OR: 1.49 [1.38, 1.6] AUROC: 0.6093 — — —
PPM000658 PGS000215
(PRS330_HER2)
 PSS000359|
European Ancestry|
21,533 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
 Reported Trait: Breast cancer intrinsic-like subtype (HER2-enriched-like) OR: 1.53 [1.42, 1.65] AUROC: 0.6208 — — —
PPM000657 PGS000005
(PRS313_ERpos)
 PSS000362|
European Ancestry|
22,497 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.		 Reported Trait: Breast cancer intrinsic-like subtype (luminal B-like) OR: 1.66 [1.58, 1.75] AUROC: 0.64 — — —
PPM000656 PGS000004
(PRS313_BC)
 PSS000362|
European Ancestry|
22,497 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.		 Reported Trait: Breast cancer intrinsic-like subtype (luminal B-like) OR: 1.68 [1.6, 1.77] AUROC: 0.6432 — — —
PPM000655 PGS000214
(PRS330_LumB)
 PSS000362|
European Ancestry|
22,497 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
 Reported Trait: Breast cancer intrinsic-like subtype (luminal B-like) OR: 1.69 [1.61, 1.77] AUROC: 0.6431 — — —
PPM000653 PGS000004
(PRS313_BC)
 PSS000361|
European Ancestry|
22,594 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.		 Reported Trait: Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) OR: 1.62 [1.55, 1.71] AUROC: 0.6336 — — —
PPM000652 PGS000213
(PRS330_LumBHER2neg)
 PSS000361|
European Ancestry|
22,594 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
 Reported Trait: Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) OR: 1.62 [1.54, 1.7] AUROC: 0.633 — — —
PPM000651 PGS000005
(PRS313_ERpos)
 PSS000360|
European Ancestry|
28,140 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.		 Reported Trait: Breast cancer intrinsic-like subtype (luminal A-like) OR: 1.82 [1.77, 1.87] AUROC: 0.6595 — — —
PPM000650 PGS000004
(PRS313_BC)
 PSS000360|
European Ancestry|
28,140 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.		 Reported Trait: Breast cancer intrinsic-like subtype (luminal A-like) OR: 1.8 [1.75, 1.86] AUROC: 0.6573 — — —
PPM000649 PGS000212
(PRS330_LumA)
 PSS000360|
European Ancestry|
28,140 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
 Reported Trait: Breast cancer intrinsic-like subtype (luminal A-like) OR: 1.83 [1.78, 1.88] AUROC: 0.6609 — — —

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
PSS000359 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (4) HER2-enriched-like (ER- and PR-, HER2+) —
[
  • 718 cases
  • , 20,815 controls
]
,
0.0 % Male samples
 — European — 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
 Heldout subset (20%) of the BCAC consortium data
PSS000360 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (1) luminal A-like (ER+ and/or PR+, HER2-, grade 1 & 2);  —
[
  • 7,325 cases
  • , 20,815 controls
]
,
0.0 % Male samples
 — European — 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
 Heldout subset (20%) of the BCAC consortium data
PSS000361 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (2) luminal B/HER2-negative-like (ER+ and/or PR+, HER2-, grade 3) —
[
  • 1,779 cases
  • , 20,815 controls
]
,
0.0 % Male samples
 — European — 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
 Heldout subset (20%) of the BCAC consortium data
PSS000362 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (3) luminal B-like (ER+ and/or PR+, HER2+);  —
[
  • 1,682 cases
  • , 20,815 controls
]
,
0.0 % Male samples
 — European — 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
 Heldout subset (20%) of the BCAC consortium data
PSS000363 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (5) triple-negative ( ER-, PR-, HER2-).  —
[
  • 2,006 cases
  • , 20,815 controls
]
,
0.0 % Male samples
 — European — 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
 Heldout subset (20%) of the BCAC consortium data