Polygenic Score (PGS) ID: PGS000004

Predicted Trait
Reported Trait Breast Cancer
Mapped Trait(s) breast carcinoma (EFO_0000305)
Released in PGS Catalog: Oct. 14, 2019
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name PRS313_BC
Variants
Original Genome Build GRCh37
Number of Variants 313
Development Method
Name Hard-Thresholding Stepwise Forward Regression
Parameters p < 10^-5
PGS Source
PGS Catalog Publication (PGP) ID PGP000002
Citation (link to publication) Mavaddat N et al. Am J Hum Genet (2018)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
139,274 individuals (100%)
Score Development/Training
European: 100%
169,092 individuals (100%)
PGS Evaluation
European: 84.6%
Additional Asian Ancestries: 7.7%
Multi-ancestry (including European): 7.7%
  • European
  • African
  • Additional Asian Ancestries
  • Not Reported
26 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST004988
Europe PMC: 29059683
139,274 individuals European
Score Development/Training
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
Invasive breast cancer-affected
[
  • 88,916 cases
  • , 69,732 controls
]
,
0.0 % Male samples
European 68 cohorts
  • 2SISTER
  • ,ABCFS
  • ,ABCS
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BBCS
  • ,BCEES
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BCINIS
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CBCS
  • ,CCGP
  • ,CECILE
  • ,CGPS
  • ,CNIO-BCS
  • ,CPSII
  • ,CTS
  • ,DIETCOMPLYF
  • ,ESTHER
  • ,GC-HBOC
  • ,GENICA
  • ,GEPARSIXTO
  • ,GESBC
  • ,HCSC
  • ,HEBCS
  • ,HMBCS
  • ,HUOCS
  • ,KARBAC
  • ,KBCP
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MISS
  • ,MMHS
  • ,MSKCC
  • ,MTLGEBCS
  • ,NBCS
  • ,NBHS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PREFACE
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SMC
  • ,SUCCESSB
  • ,SUCCESSC
  • ,SZBCS
  • ,TNBCC
  • ,UCIBCS
  • ,UKOPS
  • ,WHI
  • ,pKARMA
Training Cohort
Invasive breast cancer-affected
[
  • 5,159 cases
  • , 5,285 controls
]
,
0.0 % Male samples
European 25 cohorts
  • ABCTB
  • ,BBCC
  • ,BCEES
  • ,BCINIS
  • ,BREOGAN
  • ,CBCS
  • ,CCGP
  • ,CGPS
  • ,CPSII
  • ,CTS
  • ,GENICA
  • ,HMBCS
  • ,LMBC
  • ,MCBCS
  • ,MCCS
  • ,MISS
  • ,MMHS
  • ,NBHS
  • ,ORIGO
  • ,PBCS
  • ,SEARCH
  • ,SMC
  • ,UCIBCS
  • ,WHI
  • ,pKARMA
Validation Cohort

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)
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
PPM000005 PSS000007|
European Ancestry|
190,040 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
Reported Trait: Incident breast cancer cases HR: 1.59 [1.54, 1.64] study, genetic PCs 1-15 Included only 306 of the 313 SNPs
PPM000004 PSS000004|
European Ancestry|
29,751 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
Reported Trait: Invasive breast cancer OR: 1.61 [1.57, 1.65] AUROC: 0.63 study, genetic PCs 1-15
PPM000940 PSS000482|
European Ancestry|
84,607 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.39 [1.13, 1.7] Age, country, PCs (1-10)
PPM000938 PSS000482|
European Ancestry|
84,607 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.3 [1.26, 1.35] Age, country
PPM001345 PSS000450|
European Ancestry|
122,978 individuals
PGP000102 |
Mars N et al. Nat Commun (2020)
|Ext.
Reported Trait: Breast cancer HR: 1.55 [1.52, 1.58] 10 ancestry PCs, batch, age as time scale 260/313 variants in the PRS are polymorphic in FinnGen
PPM000957 PSS000482|
European Ancestry|
84,607 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.39 [1.13, 1.7] Age, country, PCs (1-10)
PPM000959 PSS000481|
Additional Asian Ancestries|
12,473 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.15 [1.02, 1.29] Age, country
PPM000955 PSS000482|
European Ancestry|
84,607 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.3 [1.26, 1.35] Age, country
PPM001347 PSS000450|
European Ancestry|
122,978 individuals
PGP000102 |
Mars N et al. Nat Commun (2020)
|Ext.
Reported Trait: Breast cancer OR: 1.61 [1.57, 1.64] Age, 10 ancestry PCs, batch 260/313 variants in the PRS are polymorphic in FinnGen
PPM000958 PSS000483|
European Ancestry|
143,830 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.67 [1.59, 1.76] Age, country, PCs (1-10)
PPM000954 PSS000485|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Estrogen-receptor positive metachronous invasive contralateral breast cancer HR: 1.38 [1.23, 1.55] Country
PPM000953 PSS000486|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.24 [1.16, 1.32] Country
PPM000951 PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer HR: 1.25 [1.18, 1.33] C-index: 0.563 [0.547, 0.586] Country
PPM000941 PSS000483|
European Ancestry|
143,830 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.67 [1.59, 1.76] Age, country, PCs (1-10)
PPM000942 PSS000481|
Additional Asian Ancestries|
12,473 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.15 [1.02, 1.29] Age, country
PPM000960 PSS000480|
Additional Asian Ancestries|
25,531 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.56 [1.52, 1.6] Age, country
PPM000956 PSS000483|
European Ancestry|
143,830 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.82 [1.8, 1.84] Age, country
PPM000943 PSS000480|
Additional Asian Ancestries|
25,531 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.56 [1.52, 1.6] Age, country
PPM000937 PSS000485|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Estrogen-receptor positive metachronous invasive contralateral breast cancer HR: 1.38 [1.23, 1.55] Country
PPM000936 PSS000486|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.24 [1.16, 1.32] Country
PPM000935 PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer C-index: 0.623 [0.591, 0.629] Country, age at first diagnosis, year of first diagnosis, family history for breast cancer in a first degree relative, clinical characteristics of the first breast cancer (nodal status, tumor size, differentiation grade, morphology, estrogen receptor status, human epidermal growth factor receptor 2 status, chemotherapy, endocrine therapy, radiotherapy)
PPM000934 PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer HR: 1.25 [1.18, 1.33] C-index: 0.563 [0.547, 0.586] Country
PPM000952 PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer C-index: 0.623 [0.591, 0.629] Country, age at first diagnosis, year of first diagnosis, family history for breast cancer in a first degree relative, clinical characteristics of the first breast cancer (nodal status, tumor size, differentiation grade, morphology, estrogen receptor status, human epidermal growth factor receptor 2 status, chemotherapy, endocrine therapy, radiotherapy)
PPM000939 PSS000483|
European Ancestry|
143,830 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.82 [1.8, 1.84] Age, country
PPM001012 PSS000521|
European Ancestry|
18,935 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Breast cancer in BRCA1 carriers HR: 1.2 [1.17, 1.23] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001013 PSS000525|
European Ancestry|
12,339 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Breast cancer in BRCA2 carriers HR: 1.31 [1.26, 1.36] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001014 PSS000522|
European Ancestry|
13,401 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER negative breast cancer in BRCA1 carriers HR: 1.09 [1.05, 1.13] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001015 PSS000526|
European Ancestry|
8,752 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER negative breast cancer in BRCA2 carriers HR: 1.19 [1.1, 1.29] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001016 PSS000523|
European Ancestry|
13,401 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER positive breast cancer in BRCA1 carriers HR: 1.44 [1.35, 1.54] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001017 PSS000527|
European Ancestry|
8,752 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER positive breast cancer in BRCA2 carriers HR: 1.36 [1.3, 1.43] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001035 PSS000531|
European Ancestry|
1,757 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Incidient breast cancer in BRCA2 carriers HR: 1.36 [1.17, 1.57] family history of the appropriate cancer in first- and second-degree relatives
PPM000662 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
PPM000659 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
PPM000656 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
PPM000653 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
PPM000650 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
PPM001646 PSS000854|
European Ancestry|
400,812 individuals
PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
|Ext.
Reported Trait: Incident breast cancer AUROC: 0.628 [0.62, 0.637] Genotyping array Missing 25 variants (8%) based on availability of variants in the cohort
PPM001647 PSS000854|
European Ancestry|
400,812 individuals
PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
|Ext.
Reported Trait: Incident breast cancer AUROC: 0.633 [0.624, 0.641] family history of cancer (in first-degree relatives), genotyping array Missing 25 variants (8%) based on availability of variants in the cohort
PPM001945 PSS000974|
European Ancestry|
5,714 individuals
PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer in males OR: 1.55 [1.45, 1.66] Odds Ratio (OR, top 20% vs. bottom 20%): 3.86 [3.07, 4.87]
PPM001946 PSS000974|
European Ancestry|
5,714 individuals
PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer in females OR: 1.51 [1.42, 1.61] Odds Ratio (OR, top 20% vs. bottom 20%): 3.38 [2.74, 4.18]
PPM001958 PSS000979|
Multi-ancestry (including European)|
19,264 individuals
PGP000171 |
Fahed AC et al. Nat Commun (2020)
|Ext.
Reported Trait: Breast cancer in carriers of a hereditary breast and ovarian cancer variant OR: 1.44 [1.19, 1.74] Odds Ratio (OR, top 20% vs bottom 20%): 3.04 [1.61, 5.73] Age, PCs (1-4)
PPM001959 PSS000979|
Multi-ancestry (including European)|
19,264 individuals
PGP000171 |
Fahed AC et al. Nat Commun (2020)
|Ext.
Reported Trait: Breast cancer in non-carriers of a hereditary breast and ovarian cancer variant OR: 1.57 [1.49, 1.65] Age, PCs (1-4)
PPM001960 PSS000980|
Multi-ancestry (including European)|
26,595 individuals
PGP000171 |
Fahed AC et al. Nat Commun (2020)
|Ext.
Reported Trait: Prevalent breast cancer OR: 1.61 [1.52, 1.7] Age, PCs (1-4)

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
PSS000450 Breast cancer cases were identified through the Finnish Cancer Registry with diagnosis C50 (International Classification of Diseases for Oncology, 3rd Edition; ICD-O-3), from the drug reimbursement registry by selecting individuals with a reimbursement code for breast cancer, and from the death registry with ICD-10 C50.
[
  • 8,401 cases
  • , 114,577 controls
]
,
0.0 % Male samples
Mean Age (At The End Of Follow-Up) = 58.5 years
Iqr = [45.1, 72.2] years
European
(Finnish)
FinnGen
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
PSS000004 Invasive breast cancer-affected
[
  • 11,428 cases
  • , 18,323 controls
]
,
0.0 % Male samples
European 10 cohorts
  • AHS
  • ,BGS
  • ,EPIC
  • ,FHRISK
  • ,KARMA
  • ,NHS
  • ,NHS2
  • ,PLCO
  • ,PROCAS
  • ,SISTER
Prospective Test Set
PSS000007 Incident registry-confirmed invasive breast cancers developed
[
  • 3,215 cases
  • , 186,825 controls
]
,
0.0 % Male samples
European UKB Prospective Test Set (UKB)
PSS000521
[
  • 9,473 cases
  • , 9,462 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWEBCS
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000522
[
  • 3,263 cases
  • , 10,138 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWEBCS
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000523
[
  • 1,025 cases
  • , 12,376 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWEBCS
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000525
[
  • 6,332 cases
  • , 6,007 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWEBCS
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000526
[
  • 703 cases
  • , 8,049 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWEBCS
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000527
[
  • 2,312 cases
  • , 6,440 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWEBCS
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000531 Eligibility was restricted to female BRCA1 and BRCA2 carriers who at completion of the baseline questionnaire were free of any cancer diagnosis (excluding non-melanoma skin cancer) and had not undergone risk-reducing bilateral mastectomy. Participants diagosed with a first breast cancer were considered affected.
[
  • 215 cases
  • , 1,542 controls
]
,
0.0 % Male samples
European 61 cohorts
  • BCFR
  • ,BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,IBCCS
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWEBCS
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000480 Women (European Ancestry) diagnosed with unilateral breast cancer
[
  • 12,133 cases
  • , 13,398 controls
]
,
0.0 % Male samples
Asian unspecified 8 cohorts
  • CBCS
  • ,HERPACC
  • ,HKBCS
  • ,MYBRCA
  • ,NC-BCFR
  • ,SEBCS
  • ,SGBCC
  • ,TWBCS
PSS000481 Women (Asian Ancestry) diagnosed with unilateral breast cancer or CBC. CBC was defined as breast cancer (in situ or invasive) in the contralateral breast irrespective of the time since the first breast cancer.
[
  • 340 cases
  • , 12,133 controls
]
,
0.0 % Male samples
Asian unspecified 8 cohorts
  • CBCS
  • ,HERPACC
  • ,HKBCS
  • ,MYBRCA
  • ,NC-BCFR
  • ,SEBCS
  • ,SGBCC
  • ,TWBCS
PSS000482 Women (European Ancestry) diagnosed with unilateral breast cancer or CBC. CBC was defined as breast cancer (in situ or invasive) in the contralateral breast irrespective of the time since the first breast cancer.
[
  • 3,607 cases
  • , 81,000 controls
]
,
0.0 % Male samples
European 63 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,BBCC
  • ,BBCS
  • ,BCEES
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CBCS
  • ,CCGP
  • ,CGPS
  • ,CNIO-BCS
  • ,DIETCOMPLYF
  • ,FHRISK
  • ,GC-HBOC
  • ,GENICA
  • ,GESBC
  • ,GLACIER
  • ,HABCS
  • ,HCSC
  • ,HEBCS
  • ,HMBCS
  • ,HUBCS
  • ,ICICLE
  • ,KARBAC
  • ,KARMA
  • ,KBCP
  • ,KCONFAB/AOCS
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MISS
  • ,MMHS
  • ,NBCS
  • ,NC-BCFR
  • ,NCBRCS
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PREFACE
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SUCCESSB
  • ,SUCCESSC
  • ,SZBCS
  • ,TNBCC
  • ,UCIBCS
  • ,pKARMA
PSS000483 Women (European Ancestry) diagnosed with unilateral breast cancer
[
  • 81,000 cases
  • , 62,830 controls
]
,
0.0 % Male samples
European 63 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,BBCC
  • ,BBCS
  • ,BCEES
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CBCS
  • ,CCGP
  • ,CGPS
  • ,CNIO-BCS
  • ,DIETCOMPLYF
  • ,FHRISK
  • ,GC-HBOC
  • ,GENICA
  • ,GESBC
  • ,GLACIER
  • ,HABCS
  • ,HCSC
  • ,HEBCS
  • ,HMBCS
  • ,HUBCS
  • ,ICICLE
  • ,KARBAC
  • ,KARMA
  • ,KBCP
  • ,KCONFAB/AOCS
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MISS
  • ,MMHS
  • ,NC-BCFR
  • ,NCBCS
  • ,NorBCS
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PREFACE
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SUCCESSB
  • ,SUCCESSC
  • ,SZBCS
  • ,TNBCC
  • ,UCIBCS
  • ,pKARMA
PSS000484 Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. Median = 8.4 years
[
  • 1,027 cases
  • , 55,041 controls
]
,
0.0 % Male samples
Median (Age At Diagnosis) = 56.0 years European 42 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
  • ,kConFab
  • ,pKARMA
PSS000485 Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. Median = 8.4 years
[
  • 275 cases
  • , 55,793 controls
]
,
0.0 % Male samples
Median (Age At Diagnosis) = 56.0 years European 42 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
  • ,kConFab
  • ,pKARMA
PSS000486 Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. Median = 8.4 years
[
  • 923 cases
  • , 55,145 controls
]
,
0.0 % Male samples
Median (Age At Diagnosis) = 56.0 years European 42 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
  • ,kConFab
  • ,pKARMA
PSS000854 Data and diagnoses on site-specific incident cancers were provided by the National Health Service Information Centre for participants from England and Wales (follow-up through March 31, 2016) and by the NHS Central Register Scotland for participants from Scotland (follow-up through October 31, 2015). Cancers were coded by the International Classification of Diseases, Ninth Revision (ICD-9) or the International Classification of Diseases, Tenth Revision (ICD-10). Breast cancer=(ICD-9 = 174 or ICD-10 = C50). Median = 5.8 years
[
  • 4,340 cases
  • , 396,472 controls
]
,
46.5 % Male samples
European UKB
PSS000974 Cases are individuals with breast cancer. 1380 of these are male breast cancer cases and 1671 are female breast cancer cases
[
  • 3,051 cases
  • , 2,663 controls
]
,
48.07 % Male samples
European B58C, COH, UK-BCN-MBCS, UKBGS Additional male breast cancer cases were recruited from the University of Leeds, the University of Cambridge.
PSS000979 Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer.
[
  • 1,375 cases
  • , 12,365 controls
]
,
0.0 % Male samples
European CG
PSS000979 Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer.
[
  • 30 cases
  • , 410 controls
]
,
0.0 % Male samples
African unspecified CG
PSS000979 Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer.
[
  • 83 cases
  • , 695 controls
]
,
0.0 % Male samples
Asian unspecified CG
PSS000979 Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer.
[
  • 432 cases
  • , 3,874 controls
]
,
0.0 % Male samples
Not reported CG
PSS000980 Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant.
[
  • 1,276 cases
  • , 23,442 controls
]
,
0.0 % Male samples
European UKB
PSS000980 Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant.
[
  • 12 cases
  • , 612 controls
]
,
0.0 % Male samples
African unspecified UKB
PSS000980 Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant.
[
  • 25 cases
  • , 597 controls
]
,
0.0 % Male samples
Asian unspecified UKB
PSS000980 Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant.
[
  • 24 cases
  • , 607 controls
]
,
0.0 % Male samples
Not reported UKB