Evidence map›Paper›PMID 29315403›Full record

ArticleInternational journal of epidemiology2018

Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium.

Anja Rudolph, Minsun Song, Mark N Brook, Roger L Milne, Nasim Mavaddat, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Amber N Wilcox and 41 more

Open access · hybridAbstract readMulticenter Study
In one paragraph

Article in International journal of epidemiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed, 1 pooled it
12.1field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

59 citing papers in PubMed, 1 synthesis or guideline pooled it, 115 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
  4. Methods for modeling gene-environment interplay using polygenic risk scores.Statistical applications in genetics and molecular biology · 2026
    Review
  5. Article
  6. Article
  7. Article
  8. Review
  9. Development of a Breast Cancer Risk Prediction Model Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Korean Women.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023
    Article
  10. Polygenic scores in cancer.Nature reviews. Cancer · 2023
    Review
  11. Article
  12. Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023
    Article
  13. Review
  14. Article
  15. Multiancestral polygenic risk score for pediatric asthma.The Journal of allergy and clinical immunology · 2022
    Article
  16. Article
  17. Multidimensional Early Prediction Score for Drug-Resistant Epilepsy.Journal of clinical neurology (Seoul, Korea) · 2022
    Article
  18. Article
  19. Burden of female breast cancer in the Middle East and North Africa region, 1990-2019.Archives of public health = Archives belges de sante publique · 2022
    Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

51 authors at 20 institutions in 15 countries.

Anja RudolphDivision of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany.
Minsun SongDepartment of Statistics, Sookmyung Women's University, Seoul, Korea.
Mark N BrookDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Roger L MilneCancer Epidemiology and Intelligence Division, Cancer Council Victoria, Melbourne, VIC, Australia.
Nasim MavaddatDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Kyriaki MichailidouDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Manjeet K BollaDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Qin WangDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Joe DennisDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Amber N WilcoxDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
John L HopperCentre for Epidemiology and Biostatistics, University of Melbourne, Melbourne, VIC, Australia.
Melissa C SoutheyDepartment of Pathology, University of Melbourne, Melbourne, VIC, Australia.
Renske KeemanDivision of Molecular Pathology, The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Peter A FaschingDepartment of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
Matthias W BeckmannDepartment of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
Manuela Gago-DominguezGenomic Medicine Group, Galician Foundation of Genomic Medicine, Instituto de Investigación Sanitaria de Santiago, IDIS, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain.
Jose E CastelaoOncology and Genetics Unit, Complejo Hospitalario Universitario de Vigo, Instituto de Investigacion Sanitaria Galicia Sur, Vigo, Spain.
Pascal GuénelCenter for Research in Epidemiology and Population Health, University Paris-Sud, University Paris-Saclay, Villejuif, France.
Thérèse TruongCenter for Research in Epidemiology and Population Health, University Paris-Sud, University Paris-Saclay, Villejuif, France.
Stig E BojesenCopenhagen General Population Study.
Henrik FlygerDepartment of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research.
Volker ArndtDivision of Clinical Epidemiology and Aging Research.
Hiltrud BrauchGerman Cancer Consortium, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Thomas BrüningInstitute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum, Bochum, Germany.
Arto MannermaaTranslational Cancer Research Area.
Veli-Matti KosmaTranslational Cancer Research Area.
Diether LambrechtsVIB Center for Cancer Biology, Leuven, Belgium.
Machteld KeupersDepartment of Radiation Oncology, University Hospitals Leuven, Leuven, Belgium.
Fergus J CouchDepartment of Laboratory Medicine and Pathology.
Celine VachonDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Graham G GilesCancer Epidemiology and Intelligence Division, Cancer Council Victoria, Melbourne, VIC, Australia.
Robert J MacInnisCancer Epidemiology and Intelligence Division, Cancer Council Victoria, Melbourne, VIC, Australia.
Jonine FigueroaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Louise BrintonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Judith S BrandDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Marike GabrielsonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Keith HumphreysDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Angela CoxDepartment of Oncology and Metabolism.
Simon S CrossDepartment of Neuroscience, University of Sheffield, Sheffield, UK.
Alison M DunningDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Nick OrrDivision of Breast Cancer Research, Institute of Cancer Research, London, UK.
Anthony SwerdlowDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Paul D P PharoahDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Marjanka K SchmidtDivision of Molecular Pathology, The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Douglas F EastonDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Nilanjan ChatterjeeDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
University of Cambridge · GBKarolinska Institutet · SEThe University of Melbourne · AUNational Cancer Institute · USGerman Cancer Research Center · DEInstitute of Cancer Research · GBCentre de recherche en Epidémiologie et Santé des Populations · FRThe Netherlands Cancer Institute · NLUniversity of Eastern Finland · FIGentofte Hospital · DKInstitute for Prevention and Occupational Medicine · DEInstitute of Aging · CAJohns Hopkins University · USKU Leuven · BEMayo Clinic in Florida · USSookmyung Women's University · KRUniversität Hamburg · DEUniversitätsklinikum Erlangen · DEUniversity Hospital Complex Of Vigo · ESUniversity of California, Los Angeles · US

Funding

Hormone-Related CancersZIACP010126 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI GIERACH, GRETCHEN · 2009 to 2025
$103.5M
Breast Cancer Family Registry CohortUM1CA164920 · NCI · CANCER PREVENTION INSTIT OF CALIFORNIA · PI ANDRULIS, IRENE, BUYS, SAUNDRA S · 2012 to 2017
$12.7M
Risk and penetrance of mutations from breast cancer testing panels.R01CA192393 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH, NATHANSON, KATHERINE L. · 2014 to 2018
$6.3M
Identifying and validating novel susceptibility genes for breast cancerR01CA176785 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH, NATHANSON, KATHERINE L. · 2014 to 2018
$3.4M
BRCA2 missense mutations and breast cancerR01CA116167 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2007 to 2011
$3.0M
BRCA1 and BRCA2 missense mutations and breast cancer riskU01CA116167 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2013 to 2017
$2.7M
Cancer Research UK 10118Cancer Research UK 10119Cancer Research UK 10124Cancer Research UK 16561Cancer Research UK 16563Cancer Research UK 16565Cancer Research UK C1287/A16563NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA176785NCI NIH HHS R01 CA192393NCI NIH HHS U01 CA116167NCI NIH HHS UM1 CA164920
6 · The paper itself

Abstract

Background: Polygenic risk scores (PRS) for breast cancer can be used to stratify the population into groups at substantially different levels of risk. Combining PRS and environmental risk factors will improve risk prediction; however, integrating PRS into risk prediction models requires evaluation of their joint association with known environmental risk factors. Methods: Analyses were based on data from 20 studies; datasets analysed ranged from 3453 to 23 104 invasive breast cancer cases and similar numbers of controls, depending on the analysed environmental risk factor. We evaluated joint associations of a 77-single nucleotide polymorphism (SNP) PRS with reproductive history, alcohol consumption, menopausal hormone therapy (MHT), height and body mass index (BMI). We tested the null hypothesis of multiplicative joint associations for PRS and each of the environmental factors, and performed global and tail-based goodness-of-fit tests in logistic regression models. The outcomes were breast cancer overall and by estrogen receptor (ER) status. Results: The strongest evidence for a non-multiplicative joint associations with the 77-SNP PRS was for alcohol consumption (P-interaction = 0.009), adult height (P-interaction = 0.025) and current use of combined MHT (P-interaction = 0.038) in ER-positive disease. Risk associations for these factors by percentiles of PRS did not follow a clear dose-response. In addition, global and tail-based goodness of fit tests showed little evidence for departures from a multiplicative risk model, with alcohol consumption showing the strongest evidence for ER-positive disease (P = 0.013 for global and 0.18 for tail-based tests). Conclusions: The combined effects of the 77-SNP PRS and environmental risk factors for breast cancer are generally well described by a multiplicative model. Larger studies are required to confirm possible departures from the multiplicative model for individual risk factors, and assess models specific for ER-negative disease.

Indexed as

Genetic Predisposition to DiseaseAdultAgedBreast NeoplasmsCase-Control StudiesEuropeFemaleGene-Environment InteractionHumansLogistic ModelsMiddle AgedPolymorphism, Single NucleotideRisk AssessmentRisk Factors

Identifiers

PMID29315403
PMCPMC5913605
OpenAlexW2781651514

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.